Varaico: Literature-Extracted Genetic Variants

Gene:KRT4
Variant:p.M35I

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
1 paper
NM_002272.4
p.M35I
c.105G>C
Surrounding Variants
1 paper
NM_002272.4
p.M35I
c.105G>T
1 paper
NM_002272.4
p.M35I
c.105G>A
1 paper
NM_002272.4
p.R27I
c.80G>T
1 paper
NM_002272.4
p.G46R
c.136G>C
1 paper
NM_002272.4
p.G46R
c.136G>A
1 paper
NM_002272.4
p.S19S
c.57G>C
1 paper
NM_002272.4
p.L52delFs
c.155delA
1 paper
NM_002272.4
p.S16fs
c.46_47fs
1 paper
NM_002272.4
p.R56K
c.167G>A
1 paper
NM_002272.4
p.S60N
c.179G>A
1 paper
NM_002272.4
p.R9P
c.26G>C
1 paper
NM_002272.4
p.Q6H
c.18G>T
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