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.Y1162N

c.3484T>A

Surrounding Variants

2 papers

NM_000038.6

p.Y1162H

c.3484T>C

1 paper

NM_000038.6

p.Y1162fs

c.3484_3485fs

2 papers

NM_000038.6

p.Y1162C

c.3485A>G

1 paper

NM_000038.6

p.Y1162F

c.3485A>T

1 paper

NM_000038.6

p.N1161K

c.3483T>A

1 paper

NM_000038.6

p.Y1162_S1163delFs

c.3486_3487delTA

1 paper

NM_000038.6

p.N1161S

c.3482A>G

6 papers

NM_000038.6

p.Y1162*

c.3486T>A

1 paper

NM_000038.6

p.Y1162Y

c.3486T>C

6 papers

NM_000038.6

p.Y1162*

c.3486T>G

1 paper

NM_000038.6

p.S1163delFs

c.3488delG

1 paper

NM_000038.6

p.S1163fs

c.3487_3488fs