Varaico: Literature-Extracted Genetic Variants

Gene:KRT6B
Variant:p.L469P

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.L469P
c.1406T>C
Surrounding Variants
1 paper
NM_005555.4
p.L469R
c.1406T>G
1 paper
NM_005555.4
p.L468P
c.1403T>C
13 papers
NM_005555.4
p.E472K
c.1414G>A
1 paper
NM_005555.4
p.R466C
c.1396C>T
1 paper
NM_005555.4
p.E473insFs
c.1417dupG
1 paper
NM_005555.4
p.T464P
c.1390A>C
1 paper
NM_005555.4
p.A463P
c.1387G>C
1 paper
NM_005555.4
p.A463T
c.1387G>A
1 paper
NM_005555.4
p.I462N
c.1385T>A
1 paper
NM_005555.4
p.E461*
c.1381G>T
5 papers
NM_005555.4
p.E461K
c.1381G>A
1 paper
NM_005555.4
p.V454I
c.1360G>A
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