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.K1826K

c.5478G>A

Surrounding Variants

3 papers

NM_000038.6

p.L1827_E1831del5

c.5479_5492del15

2 papers

NM_000038.6

p.L1827F

c.5479C>T

1 paper

NM_000038.6

p.L1827_N1829delFs

c.5481_5487del7

1 paper

NM_000038.6

p.D1825D

c.5475T>C

4 papers

NM_000038.6

p.P1828_N1829insG

c.5482_5486ins3

1 paper

NM_000038.6

p.P1828S

c.5482C>T

1 paper

NM_000038.6

p.P1828L

c.5483C>T

1 paper

NM_000038.6

p.D1825Y

c.5473G>T

1 paper

NM_000038.6

p.N1829fs

c.5485_5486fs

1 paper

NM_000038.6

p.N1824D

c.5470A>G

1 paper

NM_000038.6

p.F1823L

c.5469C>A

1 paper

NM_000038.6

p.F1823L

c.5469C>G