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

2 papers

NM_000038.6

p.G279D

c.836G>A

Surrounding Variants

1 paper

NM_000038.6

p.S280delFs

c.838delT

3 papers

NM_000038.6

p.S280_T281del2

c.838_842del6

2 papers

NM_000038.6

p.G279S

c.835G>A

1 paper

NM_000038.6

p.G279R

c.835G>C

1 paper

NM_000038.6

p.G279C

c.835G>T

2 papers

NM_000038.6

p.G279fs

c.835_836fs

5 papers

NM_000038.6

p.Q278_G279Splc

c.835-1G>A

1 paper

NM_000038.6

p.Q278_G279Splc

c.835-1G>C

1 paper

NM_000038.6

p.S280P

c.838T>C

3 papers

NM_000038.6

p.S280_T281delFs

c.839_842del4

1 paper

NM_000038.6

p.Q278_G279Splc

c.835-2A>C

1 paper

NM_000038.6

p.Q278_G279Splc

c.835-2A>G