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.R1463delins

c.4387_4388delinsGA

Surrounding Variants

2 papers

NM_000038.6

p.R1463fs

c.4387_4388fs

4 papers

NM_000038.6

p.R1463*

c.4387A>T

1 paper

NM_000038.6

p.R1463K

c.4388G>A

1 paper

NM_000038.6

p.K1462N

c.4386G>C

1 paper

NM_000038.6

p.R1463insFs

c.4387dupA

1 paper

NM_000038.6

p.K1462N

c.4386G>T

3 papers

NM_000038.6

p.R1463S

c.4389A>C

2 papers

NM_000038.6

p.K1462R

c.4385A>G

3 papers

NM_000038.6

p.R1463S

c.4389A>T

15 papers

NM_000038.6

p.S1465insFs

c.4393_4394dupAG

25 papers

NM_000038.6

p.K1462fs

c.4384_4385fs

NM_001127511.3

p.K1444fs

c.4330_4331fs

1 paper

NM_001127511.3

p.K1444E

c.4330A>G