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.V1961I

c.5881G>A

Surrounding Variants

1 paper

NM_000038.6

p.V1961F

c.5881G>T

37 papers

NM_000038.6

p.P1960P

c.5880G>A

1 paper

NM_000038.6

p.P1960P

c.5880G>T

3 papers

NM_000038.6

p.P1960L

c.5879C>T

2 papers

NM_000038.6

p.P1960S

c.5878C>T

1 paper

NM_000038.6

p.C1962fs

c.5884_5885fs

1 paper

NM_000038.6

p.C1962delFs

c.5885delG

4 papers

NM_000038.6

p.C1962Y

c.5885G>A

1 paper

NM_000038.6

p.C1962*

c.5886C>A

1 paper

NM_000038.6

p.T1959I

c.5876C>T

1 paper

NM_000038.6

p.T1959_P1960insTG

c.5875_5879ins6

1 paper

NM_000038.6

p.T1959delFs

c.5876delC