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.T1493_E1494delins

c.4479_4480delinsAA

Surrounding Variants

88 papers

NM_000038.6

p.T1493T

c.4479G>A

NM_001127511.3

p.T1475T

c.4425G>A

1 paper

NM_000038.6

p.T1493_E1494insFs

c.4479_4480insA

1 paper

NM_000038.6

p.T1493T

c.4479G>T

1 paper

NM_000038.6

p.T1493_E1494Fs

c.4479_4480delinsAFs

1 paper

NM_000038.6

p.T1493_E1494delins

c.4479_4480delinsAT

1 paper

NM_000038.6

p.T1493_T1496Fs

c.4479_4487delinsAGFs

1 paper

NM_000038.6

p.T1493insFs

c.4478_4479insA

4 papers

NM_000038.6

p.T1493M

c.4478C>T

7 papers

NM_000038.6

p.E1494delFs

c.4480delG

10 papers

NM_000038.6

p.T1493_E1494delFs

c.4479_4480delGG

3 papers

NM_000038.6

p.E1494K

c.4480G>A

1 paper

NM_000038.6

p.E1494Q

c.4480G>C