Varaico: Literature-Extracted Genetic Variants

Gene:KRT2
Variant:p.A319S

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.A319S
c.955G>T
Surrounding Variants
1 paper
NM_000423.3
p.A319V
c.956C>T
1 paper
NM_000423.3
p.D304_L305insGGC
c.910_914ins9
3 papers
NM_000423.3
p.V303_D304insGGC
c.907_911ins9
1 paper
NM_000423.3
p.K302_V303ins10
c.904_908ins30
1 paper
NM_000423.3
p.S301_K302ins15
c.901_905ins45
1 paper
NM_000423.3
p.Q300_S301ins8
c.898_902ins24
4 papers
NM_000423.3
p.Q300_S301ins15
c.898_902ins45
1 paper
NM_000423.3
p.K287_D288Splc
c.862-12C>T
1 paper
NM_000423.3
p.I324_Q326del3
c.970_977del9
1 paper
NM_000423.3
p.M337T
c.1010T>C
1 paper
NM_000423.3
p.R341H
c.1022G>A
1 paper
NM_000423.3
p.D344V
c.1031A>T
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