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.E1080delFs

c.3238_3239delGA

Surrounding Variants

1 paper

NM_000038.6

p.T1079S

c.3236C>G

1 paper

NM_001127511.3

p.T1061_S1063delFs

c.3183_3187del5

2 papers

NM_000038.6

p.E1080K

c.3238G>A

1 paper

NM_000038.6

p.E1080Q

c.3238G>C

4 papers

NM_000038.6

p.E1080*

c.3238G>T

1 paper

NM_000038.6

p.T1079A

c.3235A>G

1 paper

NM_000038.6

p.T1079S

c.3235A>T

1 paper

NM_000038.6

p.E1080E

c.3240G>A

1 paper

NM_000038.6

p.Y1078*

c.3234T>A

1 paper

NM_000038.6

p.Y1078*

c.3234T>G

1 paper

NM_000038.6

p.Y1078Fs

c.3234delinsTAFs

1 paper

NM_000038.6

p.Y1078C

c.3233A>G