Varaico: Literature-Extracted Genetic Variants

Gene:KRT6B
Variant:p.N227S

KRT6B

146 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 17–159UCSCKeratin type II head
Filamentaa 162–475UCSCIntermediate filament protein

Gene Aliases

HGNC Name

keratin 6B

HGNC Previous Symbol

KRTL1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
4 papers
NM_005555.4
p.N227S
c.680A>G
Surrounding Variants
1 paper
NM_005555.4
p.Q224_N227del4
c.670_680del12
1 paper
NM_005555.4
p.D236H
c.706G>C
1 paper
NM_005555.4
p.E211K
c.631G>A
1 paper
NM_005555.4
p.T203T
c.609C>T
1 paper
NM_005555.4
p.T196I
c.587C>T
1 paper
NM_005555.4
p.K194N
c.582G>T
1 paper
NM_005555.4
p.K194N
c.582G>C
1 paper
NM_005555.4
p.K194R
c.581A>G
1 paper
NM_005555.4
p.L191P
c.572T>C
2 papers
NM_005555.4
p.R182Q
c.545G>A
1 paper
NM_005555.4
p.K180_V181Splc
c.541-1G>C
2 papers
NM_005555.4
p.K180_V181Splc
c.541-2A>G
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