Varaico: Literature-Extracted Genetic Variants

Gene:KRT12
Variant:p.Q386L

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.Q386L
c.1157A>T
Surrounding Variants
1 paper
NM_000223.4
p.Q383_V387del0
c.1148_1159del12
1 paper
NM_000223.4
p.S385A
c.1153T>G
1 paper
NM_000223.4
p.S385P
c.1153T>C
1 paper
NM_000223.4
p.L384P
c.1151T>C
1 paper
NM_000223.4
p.Q389R
c.1166A>G
1 paper
NM_000223.4
p.Q383K
c.1147C>A
1 paper
NM_000223.4
p.A382A
c.1146G>A
1 paper
NM_000223.4
p.A382T
c.1144G>A
1 paper
NM_000223.4
p.L394P
c.1181T>C
1 paper
NM_000223.4
p.E395*
c.1183G>T
1 paper
NM_000223.4
p.E395Q
c.1183G>C
1 paper
NM_000223.4
p.E377E
c.1131G>A
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