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.E211V

c.632A>T

Surrounding Variants

1 paper

NM_000038.6

p.E211A

c.632A>C

3 papers

NM_000038.6

p.E211G

c.632A>G

1 paper

NM_000038.6

p.E211E

c.633A>G

1 paper

NM_000038.6

p.E211D

c.633A>T

3 papers

NM_000038.6

p.K212_R213insFs

c.636_637insA

2 papers

NM_000038.6

p.K212_R213insFs

c.636_637insAA

2 papers

NM_000038.6

p.E211fs

c.631_632fs

2 papers

NM_000038.6

p.E211*

c.631G>T

6 papers

NM_000038.6

p.K212delFs

c.636delA

1 paper

NM_000038.6

p.K212delFs

c.635_636delAA

2 papers

NM_000038.6

p.K212fs

c.634_635fs

1 paper

NM_000038.6

p.K212E

c.634A>G