Varaico: Literature-Extracted Genetic Variants

Gene:KDF1
Variant:p.R299C

KDF1

65 papers

Pfam Domains

DUF4656aa 34–398UCSCDomain of unknown function (DUF4656)

Gene Aliases

HGNC Name

keratinocyte differentiation factor 1

HGNC Previous Symbol

C1orf172

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_152365.3
p.R299C
c.895C>T
Surrounding Variants
1 paper
NM_152365.3
p.G300R
c.898G>C
1 paper
NM_152365.3
p.R296H
c.887G>A
1 paper
NM_152365.3
p.R303C
c.907C>T
8 papers
NM_152365.3
p.R303P
c.908G>C
1 paper
NM_152365.3
p.I304S
c.911T>G
3 papers
NM_152365.3
p.I304N
c.911T>A
4 papers
NM_152365.3
p.R307P
c.920G>C
1 paper
NM_152365.3
p.R310delFs
c.928delG
2 papers
NM_152365.3
p.R312H
c.935G>A
2 papers
NM_152365.3
p.I282S
c.845T>G
1 paper
NM_152365.3
p.S276L
c.827C>T
6 papers
NM_152365.3
p.I275L
c.823A>C
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