Varaico: Literature-Extracted Genetic Variants

Gene:KRT12
Variant:p.S114L

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.S114L
c.341C>T
Surrounding Variants
1 paper
NM_000223.4
p.N116D
c.346A>G
1 paper
NM_000223.4
p.D117G
c.350A>G
1 paper
NM_000223.4
p.G111S
c.331G>A
1 paper
NM_000223.4
p.S122P
c.364T>C
1 paper
NM_000223.4
p.S122T
c.364T>A
1 paper
NM_000223.4
p.G123R
c.367G>C
1 paper
NM_000223.4
p.G123R
c.367G>A
1 paper
NM_000223.4
p.G123A
c.368G>C
1 paper
NM_000223.4
p.S104N
c.311G>A
1 paper
NM_000223.4
p.S104C
c.310A>T
1 paper
NM_000223.4
p.G102E
c.305G>A
1 paper
NM_000223.4
p.G102R
c.304G>C
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