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.H1349delFs

c.4046delA

Surrounding Variants

2 papers

NM_000038.6

p.H1349fs

c.4045_4046fs

7 papers

NM_000038.6

p.H1349Y

c.4045C>T

1 paper

NM_000038.6

p.H1349fs

c.4045_4046fs

2 papers

NM_000038.6

p.H1349R

c.4046A>G

1 paper

NM_000038.6

p.H1349Fs

c.4047delinsAAGTCCTGTTGAFs

4 papers

NM_000038.6

p.K1350delFs

c.4050delA

1 paper

NM_000038.6

p.H1349_S1355Fs

c.4047_4064delinsTFs

1 paper

NM_000038.6

p.R1348K

c.4043G>A

3 papers

NM_000038.6

p.R1348fs

c.4042_4043fs

1 paper

NM_000038.6

p.K1350fs

c.4048_4049fs

8 papers

NM_000038.6

p.K1350*

c.4048A>T

1 paper

NM_000038.6

p.R1348W

c.4042A>T