Varaico: Literature-Extracted Genetic Variants

Gene:KRT12
Variant:p.S9*

KRT12

205 papers

RefSeq Summary

KRT12 encodes the type I intermediate filament chain keratin 12, expressed in corneal epithelia. Mutations in this gene lead to Meesmann corneal dystrophy. [provided by RefSeq, Jul 2008].

Pfam Domains

Filamentaa 124–439UCSCIntermediate filament protein

Gene Aliases

HGNC Name

keratin 12

HGNC Alias Symbol

K12

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000223.4
p.S9*
c.26C>A
Surrounding Variants
1 paper
NM_000223.4
p.L10R
c.29T>G
1 paper
NM_000223.4
p.T7insFs
c.20dupC
1 paper
NM_000223.4
p.T7T
c.21C>A
1 paper
NM_000223.4
p.R13H
c.38G>A
1 paper
NM_000223.4
p.N5T
c.14A>C
1 paper
NM_000223.4
p.R13R
c.39C>A
4 papers
NM_000223.4
p.P15S
c.43C>T
1 paper
NM_000223.4
p.L3H
c.8T>A
1 paper
NM_000223.4
p.G16R
c.46G>C
2 papers
NM_000223.4
p.G16R
c.46G>A
1 paper
NM_000223.4
p.M1I
c.3G>T
1 paper
NM_000223.4
p.M1I
c.3G>A
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