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.I357fs

c.1069_1070fs

Surrounding Variants

2 papers

NM_000038.6

p.I357insFs

c.1069dupA

1 paper

NM_000038.6

p.I357T

c.1070T>C

2 papers

NM_000038.6

p.I357I

c.1071C>A

1 paper

NM_000038.6

p.I357I

c.1071C>T

1 paper

NM_000038.6

p.L356P

c.1067T>C

1 paper

NM_000038.6

p.L356I

c.1066C>A

1 paper

NM_000038.6

p.L356fs

c.1066_1067fs

1 paper

NM_000038.6

p.Q358E

c.1072C>G

7 papers

NM_000038.6

p.Q358*

c.1072C>T

3 papers

NM_001127511.3

p.L338F

c.1012C>T

NM_000038.6

p.L356F

c.1066C>T

1 paper

NM_000038.6

p.Q358fs

c.1072_1073fs

2 papers

NM_000038.6

p.Q358R

c.1073A>G