Varaico: Literature-Extracted Genetic Variants

Gene:KRT4
Variant:p.Q156R

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.Q156R
c.467A>G
Surrounding Variants
1 paper
NM_002272.4
p.Q160*
c.478C>T
1 paper
NM_002272.4
p.Q161ins14
c.481_482ins42
1 paper
NM_002272.4
p.Q160del1
c.478_479delTTG
1 paper
NM_002272.4
p.E166G
c.497A>G
1 paper
NM_002272.4
p.N170K
c.510C>G
1 paper
NM_002272.4
p.N170K
c.510C>A
1 paper
NM_002272.4
p.T179insFs
c.536_537insAT
1 paper
NM_002272.4
p.T179fs
c.535_536fs
1 paper
NM_002272.4
p.S181fs
c.541_542fs
1 paper
NM_002272.4
p.S181delFs
c.541_542delCT
1 paper
NM_002272.4
p.K182E
c.544A>G
2 papers
NM_002272.4
p.N183S
c.548A>G
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