Varaico: Literature-Extracted Genetic Variants

Gene:KRT6B
Variant:p.G499S

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.G499S
c.1495G>A
Surrounding Variants
1 paper
NM_005555.4
p.G499A
c.1496G>C
2 papers
NM_005555.4
p.Y497C
c.1490A>G
1 paper
NM_005555.4
p.G508G
c.1524C>A
1 paper
NM_005555.4
p.L509L
c.1525C>T
1 paper
NM_005555.4
p.S487Splc
c.1460-1G>C
1 paper
NM_005555.4
p.S519G
c.1555A>G
1 paper
NM_005555.4
p.S516_G518del3
c.1546_1553del9
1 paper
NM_005555.4
p.G522delFs
c.1564delC
1 paper
NM_005555.4
p.G524G
c.1572A>G
1 paper
NM_005555.4
p.S530R
c.1588A>C
1 paper
NM_005555.4
p.S530R
c.1590C>G
1 paper
NM_005555.4
p.S530R
c.1590C>A
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