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

2 papers

NM_000038.6

p.K2599N

c.7797A>T

Surrounding Variants

2 papers

NM_000038.6

p.K2599N

c.7797A>C

1 paper

NM_000038.6

p.K2599R

c.7796A>G

2 papers

NM_000038.6

p.Q2600fs

c.7798_7799fs

1 paper

NM_000038.6

p.Q2600*

c.7798C>T

1 paper

NM_000038.6

p.Q2600fs

c.7798_7799fs

4 papers

NM_000038.6

p.S2601_E2603delFs

c.7803_7807del5

1 paper

NM_000038.6

p.S2601R

c.7801A>C

1 paper

NM_000038.6

p.S2601fs

c.7801_7802fs

1 paper

NM_000038.6

p.T2598N

c.7793C>A

3 papers

NM_000038.6

p.Q2600_S2601delFs

c.7798_7801del4

1 paper

NM_000038.6

p.T2598A

c.7792A>G

1 paper

NM_000038.6

p.S2601T

c.7802G>C