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

22 papers

NM_000038.6

p.D1058G

c.3173A>G

Surrounding Variants

2 papers

NM_000038.6

p.D1058N

c.3172G>A

1 paper

NM_000038.6

p.E1057D

c.3171A>C

1 paper

NM_000038.6

p.E1057D

c.3171A>T

3 papers

NM_000038.6

p.E1059K

c.3175G>A

1 paper

NM_000038.6

p.E1059_I1060ins11

c.3175_3179ins33

11 papers

NM_000038.6

p.E1059*

c.3175G>T

1 paper

NM_000038.6

p.I1060delFs

c.3178delA

1 paper

NM_000038.6

p.E1057G

c.3170A>G

2 papers

NM_000038.6

p.E1059V

c.3176A>T

1 paper

NM_000038.6

p.E1057Q

c.3169G>C

4 papers

NM_000038.6

p.E1057*

c.3169G>T

2 papers

NM_000038.6

p.E1057delFs

c.3170delA