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

3 papers

NM_001127511.3

p.S1309_H1311delFs

c.3927_3931del5

NM_000038.6

p.S1327_H1329delFs

c.3981_3985del5

Surrounding Variants

1 paper

NM_000038.6

p.S1327P

c.3979T>C

2 papers

NM_000038.6

p.S1327fs

c.3979_3980fs

2 papers

NM_000038.6

p.Q1328delFs

c.3982_3983delCA

11 papers

NM_000038.6

p.S1327*

c.3980C>A

1 paper

NM_000038.6

p.S1327insFs

c.3981dupA

12 papers

NM_000038.6

p.S1327*

c.3980C>G

5 papers

NM_000038.6

p.S1327L

c.3980C>T

1 paper

NM_000038.6

p.S1327S

c.3981A>G

1 paper

NM_000038.6

p.V1326A

c.3977T>C

1 paper

NM_000038.6

p.V1326insFs

c.3977_3978insC

4 papers

NM_000038.6

p.Q1328fs

c.3982_3983fs

2 papers

NM_000038.6

p.Q1328E

c.3982C>G