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.Q203Q

c.609A>G

Surrounding Variants

2 papers

NM_000038.6

p.Q203R

c.608A>G

1 paper

NM_000038.6

p.Q203L

c.608A>T

3 papers

NM_000038.6

p.Q203_L204del1

c.609_611delACT

1 paper

NM_000038.6

p.L204I

c.610C>A

2 papers

NM_000038.6

p.G205_T206insFs

c.613_616dup4

1 paper

NM_000038.6

p.Q203_L204insFs

c.609_610insA

1 paper

NM_000038.6

p.Q203fs

c.607_608fs

10 papers

NM_000038.6

p.Q203E

c.607C>G

6 papers

NM_000038.6

p.Q203*

c.607C>T

NM_001127511.3

p.Q213*

c.637C>T

1 paper

NM_000038.6

p.Q203fs

c.607_608fs

1 paper

NM_000038.6

p.L204Q

c.611T>A

1 paper

NM_000038.6

p.L204P

c.611T>C