Varaico: Literature-Extracted Genetic Variants

Gene:KRT12
Variant:p.Q400R

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.Q400R
c.1199A>G
Surrounding Variants
1 paper
NM_000223.4
p.Q400ins9
c.1198_1199ins27
1 paper
NM_000223.4
p.L399_Q400ins9
c.1195_1199ins27
1 paper
NM_000223.4
p.Q397*
c.1189C>T
1 paper
NM_000223.4
p.D404V
c.1211A>T
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.L394P
c.1181T>C
1 paper
NM_000223.4
p.Q408*
c.1222C>T
3 papers
NM_000223.4
p.V410G
c.1229T>G
1 paper
NM_000223.4
p.Q389R
c.1166A>G
1 paper
NM_000223.4
p.Q383_V387del0
c.1148_1159del12
1 paper
NM_000223.4
p.Q386L
c.1157A>T
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