Varaico: Literature-Extracted Genetic Variants

Gene:KRT12
Variant:p.S67F

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.S67F
c.200C>T
Surrounding Variants
1 paper
NM_000223.4
p.F69fs
c.205_206fs
1 paper
NM_000223.4
p.S65F
c.194C>T
3 papers
NM_000223.4
p.S65P
c.193T>C
1 paper
NM_000223.4
p.S65T
c.193T>A
1 paper
NM_000223.4
p.F69delFs
c.207delA
1 paper
NM_000223.4
p.G64D
c.191G>A
1 paper
NM_000223.4
p.G70G
c.210G>A
1 paper
NM_000223.4
p.S61Y
c.182C>A
1 paper
NM_000223.4
p.F57L
c.171T>G
1 paper
NM_000223.4
p.F57L
c.171T>A
1 paper
NM_000223.4
p.F57L
c.169T>C
1 paper
NM_000223.4
p.A78T
c.232G>A
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