Varaico: Literature-Extracted Genetic Variants

Gene:KRT2
Variant:p.R401C

KRT2

149 papers

RefSeq Summary

The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpre...

Pfam Domains

Keratin_2_headaa 21–174UCSCKeratin type II head
Filamentaa 177–490UCSCIntermediate filament protein

Gene Aliases

HGNC Name

keratin 2

HGNC Previous Symbol

KRT2A

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000423.3
p.R401C
c.1201C>T
Surrounding Variants
1 paper
NM_000423.3
p.G386E
c.1157G>A
2 papers
NM_000423.3
p.E376Q
c.1126G>C
1 paper
NM_000423.3
p.K374_Y375Splc
c.1122+2C>A
1 paper
NM_000423.3
p.K353N
c.1059G>T
1 paper
NM_000423.3
p.K353N
c.1059G>C
1 paper
NM_000423.3
p.D344V
c.1031A>T
1 paper
NM_000423.3
p.R341H
c.1022G>A
1 paper
NM_000423.3
p.M337T
c.1010T>C
1 paper
NM_000423.3
p.I324_Q326del3
c.970_977del9
1 paper
NM_000423.3
p.I424I
c.1272C>T
1 paper
NM_000423.3
p.A434V
c.1301C>T
1 paper
NM_000423.3
p.R439R
c.1317G>A
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