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.R348_C352del5

c.1042_1055del15

Surrounding Variants

17 papers

NM_000038.6

p.R348*

c.1042C>T

1 paper

NM_000038.6

p.M347T

c.1040T>C

2 papers

NM_000038.6

p.M347V

c.1039A>G

3 papers

NM_000038.6

p.R348Q

c.1043G>A

1 paper

NM_000038.6

p.S346S

c.1038C>T

1 paper

NM_001127511.3

p.Q331_S332insTA

c.991_995ins6

1 paper

NM_000038.6

p.Q349E

c.1045C>G

2 papers

NM_000038.6

p.S346F

c.1037C>T

2 papers

NM_000038.6

p.Q349*

c.1045C>T

1 paper

NM_000038.6

p.S346T

c.1036T>A

2 papers

NM_000038.6

p.I345M

c.1035A>G

1 paper

NM_000038.6

p.I345T

c.1034T>C