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.E403delFs

c.1209delA

Surrounding Variants

3 papers

NM_000038.6

p.E403K

c.1207G>A

1 paper

NM_000038.6

p.E403*

c.1207G>T

2 papers

NM_000038.6

p.E403fs

c.1207_1208fs

1 paper

NM_000038.6

p.E403A

c.1208A>C

1 paper

NM_000038.6

p.E403_L410del8

c.1207_1229del24

3 papers

NM_000038.6

p.R402H

c.1205G>A

1 paper

NM_000038.6

p.R402P

c.1205G>C

2 papers

NM_000038.6

p.R402delFs

c.1206delT

1 paper

NM_000038.6

p.R402S

c.1204C>A

1 paper

NM_000038.6

p.R405delFs

c.1213delC

2 papers

NM_000038.6

p.I404M

c.1212C>G

1 paper

NM_000038.6

p.I404I

c.1212C>T