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.Q1378delFs

c.4132_4133delCA

Surrounding Variants

1 paper

NM_000038.6

p.V1377V

c.4131T>G

1 paper

NM_000038.6

p.Q1378delFs

c.4132delC

4 papers

NM_000038.6

p.Q1378fs

c.4132_4133fs

96 papers

NM_000038.6

p.Q1378*

c.4132C>T

NM_001127511.3

p.Q1360*

c.4078C>T

2 papers

NM_000038.6

p.Q1378delFs

c.4133delA

1 paper

NM_000038.6

p.Q1378delFs

c.4133_4134delAG

1 paper

NM_000038.6

p.Q1378fs

c.4132_4133fs

1 paper

NM_000038.6

p.E1379del1

c.4135_4136delGAG

1 paper

NM_000038.6

p.V1377I

c.4129G>A

4 papers

NM_000038.6

p.V1377fs

c.4129_4130fs

3 papers

NM_000038.6

p.V1377insFs

c.4131dupT

1 paper

NM_000038.6

p.V1377_Q1378delins

c.4129_4132delinsTTTT