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.F1954delFs

c.5862delT

Surrounding Variants

1 paper

NM_000038.6

p.F1954fs

c.5860_5861fs

2 papers

NM_000038.6

p.Q1952*

c.5854C>T

1 paper

NM_000038.6

p.Q1952delFs

c.5854delC

1 paper

NM_000038.6

p.A1955T

c.5863G>A

1 paper

NM_000038.6

p.A1955S

c.5863G>T

1 paper

NM_000038.6

p.L1951S

c.5852T>C

1 paper

NM_000038.6

p.I1956V

c.5866A>G

1 paper

NM_000038.6

p.I1956N

c.5867T>A

1 paper

NM_000038.6

p.E1957*

c.5869G>T

3 papers

NM_000038.6

p.N1958delFs

c.5873delA

1 paper

NM_000038.6

p.E1949K

c.5845G>A

1 paper

NM_000038.6

p.K1950delFs

c.5849delA