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

2 papers

NM_000038.6

p.L387H

c.1160T>A

Surrounding Variants

1 paper

NM_000038.6

p.L387_H388delFs

c.1161_1162delCC

1 paper

NM_000038.6

p.L387I

c.1159C>A

1 paper

NM_000038.6

p.L387_H388insC

c.1159_1163ins3

3 papers

NM_000038.6

p.L387V

c.1159C>G

2 papers

NM_000038.6

p.L387F

c.1159C>T

1 paper

NM_000038.6

p.A386A

c.1158A>G

1 paper

NM_000038.6

p.H388Y

c.1162C>T

1 paper

NM_000038.6

p.H388fs

c.1162_1163fs

1 paper

NM_000038.6

p.H388R

c.1163A>G

1 paper

NM_000038.6

p.H388_I390del0

c.1164_1169del6

1 paper

NM_000038.6

p.H388Q

c.1164C>A

1 paper

NM_000038.6

p.H388H

c.1164C>T