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

2 papers

NM_000038.6

p.L1337_Q1338delins

c.4011_4012delinsTT

Surrounding Variants

1 paper

NM_000038.6

p.Q1338E

c.4012C>G

82 papers

NM_000038.6

p.Q1338*

c.4012C>T

1 paper

NM_000038.6

p.L1337_Q1338delFs

c.4011_4012delGC

2 papers

NM_000038.6

p.Q1338delFs

c.4014delG

2 papers

NM_000038.6

p.L1337fs

c.4009_4010fs

1 paper

NM_000038.6

p.L1337delFs

c.4010_4011delTG

1 paper

NM_000038.6

p.L1337fs

c.4009_4010fs

2 papers

NM_000038.6

p.Q1338H

c.4014G>C

2 papers

NM_000038.6

p.Q1338H

c.4014G>T

3 papers

NM_000038.6

p.G1339S

c.4015G>A

1 paper

NM_000038.6

p.R1336K

c.4007G>A

3 papers

NM_000038.6

p.R1336T

c.4007G>C