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.S338F

c.1013C>T

Surrounding Variants

1 paper

NM_000038.6

p.S338Y

c.1013C>A

1 paper

NM_000038.6

p.S338C

c.1013C>G

1 paper

NM_000038.6

p.S339_S340insC

c.1015_1019ins3

3 papers

NM_000038.6

p.M337I

c.1011G>A

2 papers

NM_000038.6

p.M337I

c.1011G>C

2 papers

NM_000038.6

p.M337I

c.1011G>T

1 paper

NM_000038.6

p.S338delFs

c.1012_1013delTC

1 paper

NM_000038.6

p.S338_Q341del0

c.1012_1023del12

3 papers

NM_000038.6

p.S339N

c.1016G>A

3 papers

NM_000038.6

p.S340insFs

c.1018_1019dupTC

1 paper

NM_000038.6

p.M337T

c.1010T>C

1 paper

NM_000038.6

p.M337insFs

c.1010_1011insA