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.E1877K

c.5629G>A

Surrounding Variants

2 papers

NM_000038.6

p.K1878delFs

c.5633delA

1 paper

NM_000038.6

p.R1876T

c.5627G>C

1 paper

NM_000038.6

p.K1878fs

c.5632_5633fs

1 paper

NM_000038.6

p.K1878_A1879ins7

c.5632_5636ins21

2 papers

NM_000038.6

p.K1878fs

c.5632_5633fs

2 papers

NM_000038.6

p.K1878R

c.5633A>G

2 papers

NM_000038.6

p.S1875delins

c.5624_5625delinsAA

1 paper

NM_000038.6

p.A1879_R1882del4

c.5635_5645del12

1 paper

NM_000038.6

p.A1879T

c.5635G>A

5 papers

NM_000038.6

p.A1879P

c.5635G>C

7 papers

NM_000038.6

p.A1879S

c.5635G>T

2 papers

NM_000038.6

p.S1875P

c.5623T>C