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.L2150fs

c.6448_6449fs

Surrounding Variants

1 paper

NM_000038.6

p.L2150F

c.6448C>T

1 paper

NM_000038.6

p.L2150delFs

c.6449delT

1 paper

NM_000038.6

p.L2150P

c.6449T>C

2 papers

NM_000038.6

p.H2149P

c.6446A>C

1 paper

NM_000038.6

p.H2149_L2150insA

c.6445_6449ins3

2 papers

NM_000038.6

p.T2151_P2152ins1

c.6453_6454insCTA

1 paper

NM_000038.6

p.T2151I

c.6452C>T

1 paper

NM_000038.6

p.F2148L

c.6444T>A

1 paper

NM_000038.6

p.F2148L

c.6444T>G

2 papers

NM_000038.6

p.P2152S

c.6454C>T

1 paper

NM_000038.6

p.F2148L

c.6442T>C

1 paper

NM_000038.6

p.P2152L

c.6455C>T