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

4 papers

NM_000038.6

p.H427Y

c.1279C>T

Surrounding Variants

2 papers

NM_000038.6

p.H427N

c.1279C>A

1 paper

NM_000038.6

p.H427_E428insA

c.1279_1283ins3

1 paper

NM_000038.6

p.H427D

c.1279C>G

1 paper

NM_000038.6

p.H427delFs

c.1281delT

1 paper

NM_000038.6

p.A426A

c.1278T>C

1 paper

NM_000038.6

p.E428_M431delFs

c.1283_1293del11

1 paper

NM_000038.6

p.A426V

c.1277C>T

1 paper

NM_000038.6

p.H427Q

c.1281T>A

1 paper

NM_000038.6

p.H427H

c.1281T>C

1 paper

NM_000038.6

p.E428_P429del2

c.1282_1286del6

2 papers

NM_000038.6

p.A426T

c.1276G>A

2 papers

NM_000038.6

p.E428K

c.1282G>A