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.L2115*

c.6344T>A

Surrounding Variants

1 paper

NM_000038.6

p.L2115S

c.6344T>C

1 paper

NM_000038.6

p.L2115*

c.6344T>G

1 paper

NM_000038.6

p.L2115fs

c.6343_6344fs

1 paper

NM_000038.6

p.H2116Y

c.6346C>T

1 paper

NM_000038.6

p.S2114T

c.6341G>C

1 paper

NM_000038.6

p.L2115delFs

c.6344delT

1 paper

NM_000038.6

p.Q2117fs

c.6349_6350fs

1 paper

NM_000038.6

p.Q2117delFs

c.6351delA

1 paper

NM_000038.6

p.S2113N

c.6338G>A

1 paper

NM_000038.6

p.S2113T

c.6338G>C

1 paper

NM_000038.6

p.S2113I

c.6338G>T

8 papers

NM_000038.6

p.A2121_A2122ins0

c.6363_6365dupTGC