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.S846fs

c.2536_2537fs

Surrounding Variants

4 papers

NM_000038.6

p.R845H

c.2534G>A

1 paper

NM_000038.6

p.R845delFs

c.2535delT

1 paper

NM_000038.6

p.R845fs

c.2533_2534fs

1 paper

NM_000038.6

p.R845_S846ins4

c.2533_2537ins12

3 papers

NM_000038.6

p.R845C

c.2533C>T

1 paper

NM_000038.6

p.E847Q

c.2539G>C

7 papers

NM_000038.6

p.K848_D849insFs

c.2544_2545insA

1 paper

NM_001127511.3

p.E829fs

c.2485_2486fs

2 papers

NM_000038.6

p.E847*

c.2539G>T

6 papers

NM_001127511.3

p.E829delFs

c.2486delA

NM_000038.6

p.K848delFs

c.2544delA

1 paper

NM_000038.6

p.E847A

c.2540A>C

1 paper

NM_000038.6

p.E847D

c.2541A>T