Varaico: Literature-Extracted Genetic Variants

Gene:KRT4
Variant:p.L119P

KRT4

106 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 14–78UCSCKeratin type II head
Keratin_2_headaa 66–133UCSCKeratin type II head
Filamentaa 136–449UCSCIntermediate filament protein

Gene Aliases

HGNC Name

keratin 4

HGNC Previous Symbol

CYK4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_002272.4
p.L119P
c.356T>C
Surrounding Variants
1 paper
NM_002272.4
p.P128H
c.383C>A
1 paper
NM_002272.4
p.G108A
c.323G>C
1 paper
NM_002272.4
p.R134R
c.402G>A
1 paper
NM_002272.4
p.N146I
c.437A>T
1 paper
NM_002272.4
p.G91S
c.271G>A
1 paper
NM_002272.4
p.N146_K147del1
c.438_440delTTG
1 paper
NM_002272.4
p.G87insFs
c.259_260ins25
1 paper
NM_002272.4
p.G87insFs
c.260_261ins28
7 papers
NM_002272.4
p.G87fs
c.259_260fs
3 papers
NM_002272.4
p.G87G
c.261T>C
1 paper
NM_002272.4
p.G87insFs
c.260_261ins26
1 paper
NM_002272.4
p.G87insFs
c.260_261ins29
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