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

5 papers

NM_000038.6

p.Q1367H

c.4101G>T

Surrounding Variants

5 papers

NM_000038.6

p.Q1367H

c.4101G>C

2 papers

NM_000038.6

p.T1368fs

c.4102_4103fs

3 papers

NM_000038.6

p.Q1367R

c.4100A>G

1 paper

NM_000038.6

p.T1368S

c.4102A>T

1 paper

NM_000038.6

p.Q1367K

c.4099C>A

1 paper

NM_000038.6

p.T1368K

c.4103C>A

1 paper

NM_000038.6

p.Q1367insFs

c.4100dupA

1 paper

NM_000038.6

p.Q1367E

c.4099C>G

104 papers

NM_000038.6

p.Q1367*

c.4099C>T

4 papers

NM_000038.6

p.T1368I

c.4103C>T

2 papers

NM_000038.6

p.Q1367fs

c.4099_4100fs

1 paper

NM_000038.6

p.P1369delFs

c.4105delC