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

2 papers

NM_000038.6

p.V557V

c.1671A>T

Surrounding Variants

1 paper

NM_000038.6

p.V557V

c.1671A>G

1 paper

NM_000038.6

p.N558fs

c.1672_1673fs

2 papers

NM_000038.6

p.N558delFs

c.1673delA

1 paper

NM_000038.6

p.N558S

c.1673A>G

1 paper

NM_000038.6

p.N558N

c.1674T>C

1 paper

NM_000038.6

p.V557_K561del0

c.1669_1683del15

1 paper

NM_000038.6

p.S559fs

c.1675_1676fs

1 paper

NM_000038.6

p.S559R

c.1675A>C

1 paper

NM_000038.6

p.V557_S559del0

c.1669_1677del9

1 paper

NM_000038.6

p.D556N

c.1666G>A

1 paper

NM_000038.6

p.S559N

c.1676G>A

1 paper

NM_000038.6

p.S559R

c.1677T>A