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_000038.6

p.P1609S

c.4825C>T

Surrounding Variants

1 paper

NM_000038.6

p.P1609fs

c.4825_4826fs

1 paper

NM_000038.6

p.P1609delFs

c.4826delC

5 papers

NM_000038.6

p.P1609L

c.4826C>T

1 paper

NM_000038.6

p.P1609P

c.4827A>G

2 papers

NM_000038.6

p.S1610G

c.4828A>G

1 paper

NM_000038.6

p.R1607S

c.4821G>C

1 paper

NM_000038.6

p.R1607S

c.4821G>T

1 paper

NM_000038.6

p.R1607T

c.4820G>C

1 paper

NM_000038.6

p.R1607G

c.4819A>G

1 paper

NM_000038.6

p.Q1611E

c.4831C>G

1 paper

NM_000038.6

p.Q1611*

c.4831C>T

1 paper

NM_000038.6

p.Q1611H

c.4833G>C