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.K1088delFs

c.3263delA

Surrounding Variants

1 paper

NM_000038.6

p.L1087delFs

c.3261delC

2 papers

NM_000038.6

p.L1087fs

c.3259_3260fs

1 paper

NM_000038.6

p.L1087F

c.3259C>T

5 papers

NM_000038.6

p.L1087fs

c.3259_3260fs

2 papers

NM_000038.6

p.L1087_K1088delFs

c.3260_3263del4

1 paper

NM_000038.6

p.H1086H

c.3258C>T

10 papers

NM_000038.6

p.L1087delFs

c.3260_3261delTC

2 papers

NM_000038.6

p.K1088K

c.3264G>A

1 paper

NM_000038.6

p.F1089delFs

c.3265delT

1 paper

NM_000038.6

p.H1086P

c.3257A>C

2 papers

NM_000038.6

p.F1089fs

c.3265_3266fs

1 paper

NM_000038.6

p.H1086fs

c.3256_3257fs