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

13 papers

NM_000038.6

p.W553*

c.1659G>A

Surrounding Variants

1 paper

NM_000038.6

p.R554G

c.1660C>G

78 papers

NM_000038.6

p.R554*

c.1660C>T

15 papers

NM_000038.6

p.W553*

c.1658G>A

1 paper

NM_000038.6

p.W553L

c.1658G>T

2 papers

NM_000038.6

p.R554Q

c.1661G>A

2 papers

NM_000038.6

p.R554L

c.1661G>T

1 paper

NM_000038.6

p.W553fs

c.1657_1658fs

1 paper

NM_000038.6

p.W553fs

c.1657_1658fs

1 paper

NM_000038.6

p.S552Y

c.1655C>A

2 papers

NM_000038.6

p.S552F

c.1655C>T

3 papers

NM_000038.6

p.W553delFs

c.1657delT

1 paper

NM_000038.6

p.A555T

c.1663G>A