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.R1114delFs

c.3340delC

Surrounding Variants

1 paper

NM_000038.6

p.R1114_V1115del2

c.3340_3344del6

1 paper

NM_000038.6

p.R1114R

c.3340C>A

176 papers

NM_000038.6

p.R1114*

c.3340C>T

4 papers

NM_000038.6

p.N1113fs

c.3337_3338fs

3 papers

NM_000038.6

p.R1114Q

c.3341G>A

2 papers

NM_000038.6

p.T1112T

c.3336A>C

1 paper

NM_000038.6

p.T1112R

c.3335C>G

1 paper

NM_000038.6

p.T1112I

c.3335C>T

1 paper

NM_000038.6

p.N1113delFs

c.3338delA

2 papers

NM_000038.6

p.N1113delFs

c.3337_3338delAA

1 paper

NM_000038.6

p.V1115L

c.3343G>C

1 paper

NM_000038.6

p.T1112fs

c.3334_3335fs