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.A386_L387insT

c.1156_1160ins3

Surrounding Variants

2 papers

NM_001127511.3

p.A368T

c.1102G>A

NM_000038.6

p.A386T

c.1156G>A

1 paper

NM_000038.6

p.A386fs

c.1156_1157fs

1 paper

NM_000038.6

p.A386_L387delFs

c.1158_1159delAC

1 paper

NM_000038.6

p.A386delFs

c.1156_1157delGC

1 paper

NM_000038.6

p.A386A

c.1158A>G

2 papers

NM_000038.6

p.A385V

c.1154C>T

1 paper

NM_000038.6

p.L387I

c.1159C>A

1 paper

NM_000038.6

p.L387_H388insC

c.1159_1163ins3

3 papers

NM_000038.6

p.L387V

c.1159C>G

2 papers

NM_000038.6

p.L387F

c.1159C>T

1 paper

NM_000038.6

p.A385T

c.1153G>A

1 paper

NM_000038.6

p.A385fs

c.1153_1154fs