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.P1052L

c.3155C>T

Surrounding Variants

1 paper

NM_000038.6

p.P1052T

c.3154C>A

1 paper

NM_000038.6

p.K1053insFs

c.3159dupA

1 paper

NM_000038.6

p.P1052insFs

c.3155_3156ins4

1 paper

NM_000038.6

p.P1052insFs

c.3154_3155insT

2 papers

NM_000038.6

p.P1052S

c.3154C>T

1 paper

NM_000038.6

p.K1053delFs

c.3158_3159delAA

1 paper

NM_000038.6

p.R1051S

c.3153A>C

1 paper

NM_000038.6

p.K1053fs

c.3157_3158fs

1 paper

NM_000038.6

p.R1051K

c.3152G>A

1 paper

NM_000038.6

p.R1051R

c.3151A>C

1 paper

NM_000038.6

p.R1051*

c.3151A>T

1 paper

NM_000038.6

p.H1054N

c.3160C>A