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

3 papers

NM_000038.6

p.H361Y

c.1081C>T

Surrounding Variants

2 papers

NM_000038.6

p.H361N

c.1081C>A

1 paper

NM_000038.6

p.H361fs

c.1081_1082fs

1 paper

NM_000038.6

p.H361delFs

c.1082delA

3 papers

NM_000038.6

p.H361R

c.1082A>G

3 papers

NM_000038.6

p.H361_N363delFs

c.1083_1087del5

3 papers

NM_000038.6

p.H361_N363del3

c.1081_1088del9

8 papers

NM_000038.6

p.L360*

c.1079T>A

1 paper

NM_000038.6

p.L360S

c.1079T>C

8 papers

NM_000038.6

p.L360*

c.1079T>G

1 paper

NM_000038.6

p.G362C

c.1084G>T

6 papers

NM_000038.6

p.G362D

c.1085G>A

1 paper

NM_000038.6

p.G362A

c.1085G>C