Varaico: Literature-Extracted Genetic Variants

Gene:KRT72
Variant:p.R13L

KRT72

126 papers

RefSeq Summary

Keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells. The type II keratins consist of basic or neutral proteins which are arranged in pairs of heter...

Pfam Domains

Keratin_2_headaa 64–121UCSCKeratin type II head
Filamentaa 124–437UCSCIntermediate filament protein

Gene Aliases

HGNC Name

keratin 72

HGNC Alias Symbols

K6IRS2; KRT6IRS2; KRT6; K6irs

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_080747.3
p.R13L
c.38G>T
Surrounding Variants
1 paper
NM_080747.3
p.L14P
c.41T>C
1 paper
NM_080747.3
p.F16S
c.47T>C
1 paper
NM_080747.3
p.H7Y
c.19C>T
1 paper
NM_080747.3
p.V22I
c.64G>A
1 paper
NM_080747.3
p.Q4H
c.12A>T
1 paper
NM_080747.3
p.R3C
c.7C>T
1 paper
NM_080747.3
p.S24Y
c.71C>A
1 paper
NM_080747.3
p.M1I
c.3G>T
1 paper
NM_080747.3
p.M1I
c.3G>C
1 paper
NM_080747.3
p.M1I
c.3G>A
1 paper
NM_080747.3
p.M1T
c.2T>C
1 paper
NM_080747.3
p.S30R
c.90C>G
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