Varaico: Literature-Extracted Genetic Variants

Gene:KDF1
Variant:p.I243T

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.I243T
c.728T>C
Surrounding Variants
1 paper
NM_152365.3
p.I243L
c.727A>C
1 paper
NM_152365.3
p.S236delFs
c.707delC
11 papers
NM_152365.3
p.F251L
c.751T>C
11 papers
NM_152365.3
p.F251L
c.753C>G
12 papers
NM_152365.3
p.F251L
c.753C>A
1 paper
NM_152365.3
p.V253A
c.758T>C
3 papers
NM_152365.3
p.H254Y
c.760C>T
2 papers
NM_152365.3
p.D257E
c.771T>G
2 papers
NM_152365.3
p.D257E
c.771T>A
1 paper
NM_152365.3
p.E258_A260del0
c.773_778del6
1 paper
NM_152365.3
p.D225N
c.673G>A
1 paper
NM_152365.3
p.S218F
c.653C>T
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