Varaico: Literature-Extracted Genetic Variants

Gene:KRT6B
Variant:p.L320V

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
2 papers
NM_005555.4
p.L320V
c.958C>G
Surrounding Variants
1 paper
NM_005555.4
p.V318E
c.953T>A
2 papers
NM_005555.4
p.S317S
c.951C>A
1 paper
NM_005555.4
p.D323E
c.969C>G
1 paper
NM_005555.4
p.D323E
c.969C>A
1 paper
NM_005555.4
p.A335delFs
c.1004delG
1 paper
NM_005555.4
p.L291L
c.873T>C
1 paper
NM_005555.4
p.K252Q
c.754A>C
1 paper
NM_005555.4
p.K252Splc
c.756-136T>C
6 papers
NM_005555.4
p.I365V
c.1093A>G
1 paper
NM_005555.4
p.D373N
c.1117G>A
1 paper
NM_005555.4
p.R386C
c.1156C>T
1 paper
NM_005555.4
p.S393F
c.1178C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."