Varaico: Literature-Extracted Genetic Variants

Gene:KDF1
Variant:p.R145W

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.R145W
c.433C>T
Surrounding Variants
2 papers
NM_152365.3
p.R150Q
c.449G>A
1 paper
NM_152365.3
p.V134M
c.400G>A
1 paper
NM_152365.3
p.S158G
c.472A>G
1 paper
NM_152365.3
p.E130K
c.388G>A
1 paper
NM_152365.3
p.K165E
c.493A>G
1 paper
NM_152365.3
p.G168D
c.503G>A
3 papers
NM_152365.3
p.R107W
c.319C>T
1 paper
NM_152365.3
p.R101_A104del4
c.301_311del12
2 papers
NM_152365.3
p.R101H
c.302G>A
1 paper
NM_152365.3
p.K189R
c.566A>G
3 papers
NM_152365.3
p.Q100R
c.299A>G
1 paper
NM_152365.3
p.P191fs
c.571_572fs
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