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.S2794S

c.8382C>T

Surrounding Variants

10 papers

NM_000038.6

p.A2795T

c.8383G>A

1 paper

NM_000038.6

p.S2794I

c.8381G>T

1 paper

NM_000038.6

p.S2793N

c.8378G>A

2 papers

NM_000038.6

p.D2796H

c.8386G>C

1 paper

NM_000038.6

p.S2793I

c.8378G>T

6 papers

NM_000038.6

p.S2797G

c.8389A>G

3 papers

NM_000038.6

p.K2792R

c.8375A>G

1 paper

NM_000038.6

p.T2798_Q2804del7

c.8392_8411del21

1 paper

NM_000038.6

p.R2791S

c.8373G>C

1 paper

NM_000038.6

p.R2791S

c.8373G>T

1 paper

NM_000038.6

p.R2791fs

c.8371_8372fs

1 paper

NM_000038.6

p.R2791G

c.8371A>G