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.E2534A

c.7601A>C

Surrounding Variants

1 paper

NM_000038.6

p.E2534D

c.7602A>C

1 paper

NM_000038.6

p.E2534K

c.7600G>A

2 papers

NM_000038.6

p.S2535G

c.7603A>G

4 papers

NM_000038.6

p.S2533F

c.7598C>T

2 papers

NM_000038.6

p.S2535N

c.7604G>A

1 paper

NM_000038.6

p.S2533_E2534insTC

c.7597_7601ins6

1 paper

NM_000038.6

p.P2536T

c.7606C>A

3 papers

NM_000038.6

p.P2536S

c.7606C>T

1 paper

NM_000038.6

p.H2532R

c.7595A>G

1 paper

NM_000038.6

p.H2532N

c.7594C>A

2 papers

NM_000038.6

p.H2532Y

c.7594C>T

1 paper

NM_000038.6

p.S2537P

c.7609T>C