Varaico: Literature-Extracted Genetic Variants

Gene:KRT6B
Variant:p.F127L

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.F127L
c.379T>C
Surrounding Variants
1 paper
NM_005555.4
p.G126D
c.377G>A
1 paper
NM_005555.4
p.F127L
c.381C>G
1 paper
NM_005555.4
p.F127L
c.381C>A
1 paper
NM_005555.4
p.G134S
c.400G>A
4 papers
NM_005555.4
p.G111D
c.332G>A
5 papers
NM_005555.4
p.S143N
c.428G>A
1 paper
NM_005555.4
p.L148P
c.443T>C
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.Q157fs
c.469_470fs
1 paper
NM_005555.4
p.R158G
c.472C>G
1 paper
NM_005555.4
p.S90_F93delins
c.269_278delinsT
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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."