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.L1036L

c.3108G>A

Surrounding Variants

1 paper

NM_000038.6

p.L1036F

c.3108G>C

1 paper

NM_000038.6

p.N1037delFs

c.3109_3110delAA

1 paper

NM_000038.6

p.N1037fs

c.3109_3110fs

1 paper

NM_000038.6

p.L1036S

c.3107T>C

1 paper

NM_001127511.3

p.N1019S

c.3056A>G

1 paper

NM_000038.6

p.Q1035Q

c.3105G>A

1 paper

NM_000038.6

p.Q1035H

c.3105G>C

1 paper

NM_000038.6

p.Q1035H

c.3105G>T

1 paper

NM_000038.6

p.S1038P

c.3112T>C

2 papers

NM_000038.6

p.Q1035*

c.3103C>T

2 papers

NM_000038.6

p.S1038F

c.3113C>T

1 paper

NM_000038.6

p.Q1035fs

c.3103_3104fs