Varaico: Literature-Extracted Genetic Variants

Gene:APC
Variant:p.S1321G

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.S1321G
c.3961A>G
Surrounding Variants
4 papers
NM_000038.6
p.S1321fs
c.3961_3962fs
2 papers
NM_000038.6
p.S1321R
c.3961A>C
1 paper
NM_000038.6
p.S1321fs
c.3961_3962fs
2 papers
NM_000038.6
p.S1321N
c.3962G>A
2 papers
NM_000038.6
p.V1320V
c.3960G>T
1 paper
NM_000038.6
p.E1322_A1325delFs
c.3964_3974del11
2 papers
NM_000038.6
p.S1321delFs
c.3963delC
2 papers
NM_000038.6
p.S1321R
c.3963C>A
2 papers
NM_000038.6
p.S1321R
c.3963C>G
1 paper
NM_000038.6
p.S1321S
c.3963C>T
1 paper
NM_000038.6
p.E1322delFs
c.3964delG
1 paper
NM_000038.6
p.V1320E
c.3959T>A
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