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.N1118T

c.3353A>C

Surrounding Variants

1 paper

NM_000038.6

p.N1118S

c.3353A>G

10 papers

NM_000038.6

p.N1118D

c.3352A>G

1 paper

NM_000038.6

p.N1118K

c.3354T>A

1 paper

NM_000038.6

p.N1118K

c.3354T>G

1 paper

NM_000038.6

p.H1119N

c.3355C>A

3 papers

NM_000038.6

p.H1119Y

c.3355C>T

1 paper

NM_000038.6

p.N1118_G1120del3

c.3352_3359del9

1 paper

NM_000038.6

p.S1117Y

c.3350C>A

1 paper

NM_000038.6

p.S1117F

c.3350C>T

1 paper

NM_000038.6

p.H1119H

c.3357T>C

2 papers

NM_000038.6

p.S1117A

c.3349T>G

1 paper

NM_000038.6

p.S1117fs

c.3349_3350fs