Varaico: Literature-Extracted Genetic Variants

Gene:KRT12
Variant:p.G54R

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.G54R
c.160G>A
Surrounding Variants
1 paper
NM_000223.4
p.G54W
c.160G>T
1 paper
NM_000223.4
p.G54R
c.160G>C
1 paper
NM_000223.4
p.F57L
c.169T>C
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.F49F
c.147T>C
1 paper
NM_000223.4
p.F47Y
c.140T>A
1 paper
NM_000223.4
p.S61Y
c.182C>A
1 paper
NM_000223.4
p.A46D
c.137C>A
1 paper
NM_000223.4
p.G44A
c.131G>C
1 paper
NM_000223.4
p.G64D
c.191G>A
3 papers
NM_000223.4
p.S65P
c.193T>C
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