Varaico: Literature-Extracted Genetic Variants

Gene:KRTAP5-1
Variant:p.C54W

KRTAP5-1

38 papers

Gene Aliases

HGNC Name

keratin associated protein 5-1

HGNC Previous Symbol

KRN1L

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001005922.1
p.C54W
c.162C>G
Surrounding Variants
1 paper
NM_001005922.1
p.C42*
c.126C>A
2 papers
NM_001005922.1
p.G37_S40delFs
c.110_120del11
1 paper
NM_001005922.1
p.G39S
c.115G>A
1 paper
NM_001005922.1
p.S38F
c.113C>T
1 paper
NM_001005922.1
p.S75F
c.224C>T
1 paper
NM_001005922.1
p.G30D
c.89G>A
1 paper
NM_001005922.1
p.G22fs
c.64_65fs
1 paper
NM_001005922.1
p.G87R
c.259G>C
1 paper
NM_001005922.1
p.G87R
c.259G>A
1 paper
NM_001005922.1
p.G87E
c.260G>A
1 paper
NM_001005922.1
p.S12F
c.35C>T
1 paper
NM_001005922.1
p.S105fs
c.313_314fs
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