Varaico: Literature-Extracted Genetic Variants

Gene:KDF1
Variant:p.C75del1

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.C75del1
c.223_224delGCA
Surrounding Variants
1 paper
NM_152365.3
p.T73delFs
c.218delG
1 paper
NM_152365.3
p.T73fs
c.217_218fs
1 paper
NM_152365.3
p.P72insFs
c.216dupC
1 paper
NM_152365.3
p.E84delFs
c.252delC
1 paper
NM_152365.3
p.F90C
c.269T>G
1 paper
NM_152365.3
p.R93C
c.277C>T
1 paper
NM_152365.3
p.C95R
c.283T>C
2 papers
NM_152365.3
p.R96Q
c.287G>A
3 papers
NM_152365.3
p.Q100R
c.299A>G
2 papers
NM_152365.3
p.R101H
c.302G>A
1 paper
NM_152365.3
p.R101_A104del4
c.301_311del12
3 papers
NM_152365.3
p.R107W
c.319C>T
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