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

43 papers

NM_000038.6

p.L1129S

c.3386T>C

Surrounding Variants

2 papers

NM_000038.6

p.L1129F

c.3387G>C

2 papers

NM_000038.6

p.L1129F

c.3387G>T

1 paper

NM_000038.6

p.L1129V

c.3385T>G

1 paper

NM_000038.6

p.L1129fs

c.3385_3386fs

1 paper

NM_000038.6

p.C1130fs

c.3388_3389fs

1 paper

NM_000038.6

p.C1130_E1132Fs

c.3388_3396delinsCTCACTTTGTTTTATTTCATCTTCAGCTFs

1 paper

NM_000038.6

p.S1128insFs

c.3383_3384insT

1 paper

NM_000038.6

p.C1130F

c.3389G>T

2 papers

NM_000038.6

p.C1130*

c.3390T>A

1 paper

NM_000038.6

p.Q1131del1

c.3391_3393delCAA

1 paper

NM_000038.6

p.Q1131K

c.3391C>A

13 papers

NM_000038.6

p.Q1131*

c.3391C>T