Varaico: Literature-Extracted Genetic Variants

APC

6,282 papers

RefSeq Summary

This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional acti...

Pfam Domains

APC_N_CCaa 4–55UCSCCoiled-coil N-terminus of APC, dimerisation domain

Suppressor_APCaa 131–207UCSCAdenomatous polyposis coli tumour suppressor protein

APC_repaa 393–466UCSCAdenomatous polyposis coli (APC) repeat

Armaa 512–553UCSCArmadillo/beta-catenin-like repeat

Armaa 649–689UCSCArmadillo/beta-catenin-like repeat

Armaa 691–731UCSCArmadillo/beta-catenin-like repeat

Gene Aliases

HGNC Name

APC regulator of Wnt signaling pathway

HGNC Alias Symbols

DP2; DP3; DP2.5; PPP1R46

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000038.6

p.L353_P354insFs

c.1059_1060insC

Surrounding Variants

1 paper

NM_000038.6

p.P354fs

c.1060_1061fs

1 paper

NM_000038.6

p.P354A

c.1060C>G

2 papers

NM_000038.6

p.P354S

c.1060C>T

1 paper

NM_000038.6

p.L353P

c.1058T>C

1 paper

NM_000038.6

p.L353_P354insFs

c.1059_1060ins11

1 paper

NM_000038.6

p.P354_L355delFs

c.1061_1065del5

3 papers

NM_000038.6

p.L353F

c.1057C>T

2 papers

NM_000038.6

p.P354L

c.1061C>T

2 papers

NM_000038.6

p.C352*

c.1056T>A

2 papers

NM_000038.6

p.L355V

c.1063C>G

2 papers

NM_000038.6

p.L355F

c.1063C>T

1 paper

NM_000038.6

p.C352S

c.1055G>C