Varaico: Literature-Extracted Genetic Variants

Gene:KRT2
Variant:p.G124R

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.G124R
c.370G>A
Surrounding Variants
1 paper
NM_000423.3
p.G124R
c.370G>C
1 paper
NM_000423.3
p.G124E
c.371G>A
1 paper
NM_000423.3
p.F118Y
c.353T>A
1 paper
NM_000423.3
p.G131A
c.392G>C
1 paper
NM_000423.3
p.S109del1
c.325_326delACT
1 paper
NM_000423.3
p.F108_S109del2
c.322_326del6
2 papers
NM_000423.3
p.F108_S109del1
c.324_326delCTG
1 paper
NM_000423.3
p.S106N
c.317G>A
1 paper
NM_000423.3
p.G104_G105ins6
c.312_313ins18
5 papers
NM_000423.3
p.G104G
c.312T>C
3 papers
NM_000423.3
p.G104ins6
c.311_312ins18
1 paper
NM_000423.3
p.F102ins1
c.304_305insGGC
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