The UMD-APC mutations database
Variations with a biological significance = Likely neutral

    Request ID: 536957719

Old nomenclature cDNA Nomenclature exon mRNA nomenclature Protein nomenclature Functional Domain Biological significance Validation by Validation date # records
450A>G
c.450A>G
4
p.Lys150Lys
Likely Neutral
unvalidated
00/00/00
2   
457A>C
c.457A>C
4
p.Lys153Gln
Likely Neutral
unvalidated
00/00/00
1   
638G>A
c.638G>A
5
p.Arg213Gln
Likely Neutral
unvalidated
00/00/00
1   
2099A>C
c.2099A>C
15
p.Asp700Ala
ASEF binding domain ARM6
Likely Neutral
unvalidated
00/00/00
2   
3102G>A
c.3102G>A
15
p.Glu1034Glu
Beta-catenin binding domain 1
Likely Neutral
unvalidated
00/00/00
1   
3173A>G
c.3173A>G
15
p.Asp1058Gly
Likely Neutral
unvalidated
00/00/00
6   
3249T>G
c.3249T>G
15
p.Asp1083Glu
Likely Neutral
unvalidated
00/00/00
1   
3425A>C
c.3425A>C
15
p.Asn1142Thr
Beta-catenin binding domain 2
Likely Neutral
unvalidated
00/00/00
1   
3471G>A
c.3471G>A
15
p.Glu1157Glu
Beta-catenin binding domain 3
Likely Neutral
unvalidated
00/00/00
5   
3511C>T
c.3511C>T
15
p.Arg1171Cys
Likely Neutral
unvalidated
00/00/00
1   
3691C>G
c.3691C>G
15
p.Leu1231Val
Likely Neutral
unvalidated
00/00/00
1   
3732A>G
c.3732A>G
15
p.Gln1244Gln
Likely Neutral
unvalidated
00/00/00
3   
3739G>A
c.3739G>A
15
p.Ala1247Thr
Likely Neutral
unvalidated
00/00/00
1   
4057G>C
c.4057G>C
15
p.Glu1353Gln
Likely Neutral
unvalidated
00/00/00
2   
4919G>A
c.4919G>A
15
p.Arg1640Gln
Likely Neutral
unvalidated
00/00/00
3   
5208A>G
c.5208A>G
15
p.Lys1736Lys
Axin binding domain 2
Likely Neutral
unvalidated
00/00/00
1   
7201C>T
c.7201C>T
15
p.Leu2401Leu
Microtubule binding domain (ba
Likely Neutral
unvalidated
00/00/00
4   
8068G>A
c.8068G>A
15
p.Ala2690Thr
EB1 & hDLG binding domain (C-t
Likely Neutral
unvalidated
00/00/00
2