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.K1821fs

c.5461_5462fs

Surrounding Variants

1 paper

NM_000038.6

p.V1822F

c.5464G>T

113 papers

NM_000038.6

p.V1822D

c.5465T>A

NM_001127511.3

p.V1804D

c.5411T>A

2 papers

NM_000038.6

p.V1822A

c.5465T>C

3 papers

NM_000038.6

p.V1822G

c.5465T>G

1 paper

NM_000038.6

p.N1819fs

c.5455_5456fs

1 paper

NM_000038.6

p.F1823L

c.5467T>C

1 paper

NM_000038.6

p.F1823_N1824insA

c.5467_5471ins3

1 paper

NM_000038.6

p.N1818_N1819insFs

c.5454_5455insA

1 paper

NM_000038.6

p.N1819_V1822del4

c.5455_5465del12

1 paper

NM_000038.6

p.N1818T

c.5453A>C

2 papers

NM_000038.6

p.N1818S

c.5453A>G

1 paper

NM_000038.6

p.N1818delFs

c.5454delT