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.P1467delFs

c.4400delC

Surrounding Variants

6 papers

NM_001354897.2

p.P1477S

c.4429C>T

NM_000038.6

p.P1467S

c.4399C>T

1 paper

NM_000038.6

p.P1467fs

c.4399_4400fs

4 papers

NM_000038.6

p.G1466E

c.4397G>A

1 paper

NM_000038.6

p.G1466delFs

c.4398delA

2 papers

NM_000038.6

p.P1467L

c.4400C>T

4 papers

NM_000038.6

p.G1466R

c.4396G>A

4 papers

NM_000038.6

p.G1466R

c.4396G>C

3 papers

NM_000038.6

p.G1466fs

c.4396_4397fs

6 papers

NM_000038.6

p.G1466*

c.4396G>T

7 papers

NM_000038.6

p.S1465R

c.4395T>A

7 papers

NM_000038.6

p.S1465R

c.4395T>G

1 paper

NM_000038.6

p.Q1469_A1470insFs

c.4406_4409dup4