Varaico: Literature-Extracted Genetic Variants

Gene:KRT12
Variant:p.L132H

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
6 papers
NM_000223.4
p.L132H
c.395T>A
Surrounding Variants
16 papers
NM_000223.4
p.L132P
c.395T>C
3 papers
NM_000223.4
p.L132V
c.394C>G
9 papers
NM_000223.4
p.N133K
c.399T>G
9 papers
NM_000223.4
p.N133K
c.399T>A
12 papers
NM_000223.4
p.Q130P
c.389A>C
12 papers
NM_000223.4
p.R135G
c.403A>G
15 papers
NM_000223.4
p.M129T
c.386T>C
10 papers
NM_000223.4
p.R135I
c.404G>T
25 papers
NM_000223.4
p.R135T
c.404G>C
10 papers
NM_000223.4
p.R135S
c.405A>T
6 papers
NM_000223.4
p.M129V
c.385A>G
9 papers
NM_000223.4
p.R135S
c.405A>C
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