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.L912insFs

c.2734_2735insA

Surrounding Variants

1 paper

NM_000038.6

p.L912fs

c.2734_2735fs

2 papers

NM_000038.6

p.E911D

c.2733A>C

2 papers

NM_000038.6

p.E911D

c.2733A>T

2 papers

NM_000038.6

p.L912delFs

c.2734delT

3 papers

NM_000038.6

p.L912*

c.2735T>A

3 papers

NM_000038.6

p.L912*

c.2735T>G

1 paper

NM_000038.6

p.L912_H913insFs

c.2736_2737insA

1 paper

NM_000038.6

p.L912delFs

c.2736delA

1 paper

NM_000038.6

p.L912_H913delFs

c.2736_2737delAC

1 paper

NM_000038.6

p.H913_T916delFs

c.2739_2748del10

1 paper

NM_000038.6

p.L912F

c.2736A>C

4 papers

NM_000038.6

p.E911G

c.2732A>G