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

1–12 of 11999 variants

630 papers

NM_000038.6

p.I1307K

c.3920T>A

327 papers

NM_000038.6

p.R1450*

c.4348C>T

232 papers

NM_000038.6

p.R876*

c.2626C>T

216 papers

NM_000038.6

p.E1317Q

c.3949G>C

176 papers

NM_000038.6

p.R1114*

c.3340C>T

169 papers

NM_000038.6

p.E1309_I1311delFs

c.3927_3931del5

161 papers

NM_000038.6

p.R216*

c.646C>T

154 papers

NM_000038.6

p.R213*

c.637C>T

153 papers

NM_000038.6

p.R232*

c.694C>T

123 papers

NM_000038.6

p.T1556insFs

c.4666_4667insA

121 papers

NM_000038.6

p.R499*

c.1495C>T

117 papers

NM_000038.6

p.T1556fs

c.4666_4667fs