Varaico: Literature-Extracted Genetic Variants

Gene:APC
Variant:p.D1871N

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
4 papers
NM_000038.6
p.D1871N
c.5611G>A
Surrounding Variants
1 paper
NM_000038.6
p.D1871G
c.5612A>G
1 paper
NM_000038.6
p.D1870G
c.5609A>G
2 papers
NM_000038.6
p.D1871D
c.5613T>C
1 paper
NM_000038.6
p.V1872I
c.5614G>A
1 paper
NM_000038.6
p.V1872D
c.5615T>A
1 paper
NM_000038.6
p.D1869H
c.5605G>C
2 papers
NM_000038.6
p.D1868G
c.5603A>G
1 paper
NM_000038.6
p.D1873E
c.5619C>A
1 paper
NM_000038.6
p.D1873E
c.5619C>G
1 paper
NM_000038.6
p.D1868N
c.5602G>A
2 papers
NM_000038.6
p.F1867L
c.5601T>A
2 papers
NM_000038.6
p.F1867L
c.5601T>G
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