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

13 papers

NM_000038.6

p.Q1152*

c.3454C>T

Surrounding Variants

2 papers

NM_000038.6

p.E1151D

c.3453A>C

2 papers

NM_000038.6

p.E1151D

c.3453A>T

1 paper

NM_000038.6

p.H1153_E1154delFs

c.3457_3460del4

4 papers

NM_000038.6

p.H1153Y

c.3457C>T

1 paper

NM_000038.6

p.E1151K

c.3451G>A

1 paper

NM_000038.6

p.E1151Q

c.3451G>C

7 papers

NM_000038.6

p.E1151*

c.3451G>T

1 paper

NM_000038.6

p.H1153P

c.3458A>C

1 paper

NM_000038.6

p.H1153Q

c.3459T>A

1 paper

NM_000038.6

p.H1153Q

c.3459T>G

1 paper

NM_000038.6

p.E1157ins1

c.3470_3471insAGA

10 papers

NM_000038.6

p.E1156_E1157del1

c.3468_3470delAGA