Varaico: Literature-Extracted Genetic Variants

Gene:KRT6B
Variant:p.G52R

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
1 paper
NM_005555.4
p.G52R
c.154G>A
Surrounding Variants
1 paper
NM_005555.4
p.G52R
c.154G>C
2 papers
NM_005555.4
p.G66G
c.198C>A
1 paper
NM_005555.4
p.K68R
c.203A>G
1 paper
NM_005555.4
p.G75_S76delFs
c.224_227del4
6 papers
NM_005555.4
p.N21S
c.62A>G
1 paper
NM_005555.4
p.G88R
c.262G>C
2 papers
NM_005555.4
p.G88R
c.262G>A
1 paper
NM_005555.4
p.S90_F93delins
c.269_278delinsT
4 papers
NM_005555.4
p.G97R
c.289G>C
4 papers
NM_005555.4
p.G97R
c.289G>A
1 paper
NM_005555.4
p.M1T
c.2T>C
4 papers
NM_005555.4
p.G111D
c.332G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."