Varaico: Literature-Extracted Genetic Variants

Gene:C8orf34
Variant:p.L78L

C8orf34

42 papers

RefSeq Summary

This gene encodes a protein that is related to the cyclic AMP dependent protein kinase regulators. Naturally occurring mutations in this gene are associated with an increased risk for severe toxicitie...

Pfam Domains

DUF5586aa 87–470UCSCFamily of unknown function (DUF5586)
DUF5586aa 458–538UCSCFamily of unknown function (DUF5586)

Gene Aliases

HGNC Name

chromosome 8 open reading frame 34

HGNC Alias Symbols

vest-1; VEST1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_052958.4
p.L78L
c.234C>G
Surrounding Variants
1 paper
NM_052958.4
p.R73H
c.218G>A
1 paper
NM_052958.4
p.P72delFs
c.216delG
1 paper
NM_052958.4
p.P59L
c.176C>T
1 paper
NM_052958.4
p.E100K
c.298G>A
1 paper
NM_052958.4
p.K101K
c.303G>A
1 paper
NM_052958.4
p.P106S
c.316C>T
1 paper
NM_052958.4
p.F19S
c.56T>C
1 paper
NM_052958.4
p.G18G
c.54C>G
1 paper
NM_052958.4
p.R16G
c.46C>G
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