Varaico: Literature-Extracted Genetic Variants

Gene:KRT12
Variant:p.L140R

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
11 papers
NM_000223.4
p.L140R
c.419T>G
Surrounding Variants
5 papers
NM_000223.4
p.L140Q
c.419T>A
1 paper
NM_000223.4
p.L140M
c.418C>A
1 paper
NM_000223.4
p.D141N
c.421G>A
1 paper
NM_000223.4
p.Y139Y
c.417C>T
1 paper
NM_000223.4
p.Y139*
c.417C>A
3 papers
NM_000223.4
p.D141E
c.423T>G
1 paper
NM_000223.4
p.Y139D
c.415T>G
15 papers
NM_000223.4
p.V143L
c.427G>T
15 papers
NM_000223.4
p.V143L
c.427G>C
9 papers
NM_000223.4
p.A137P
c.409G>C
2 papers
NM_000223.4
p.A137T
c.409G>A
1 paper
NM_000223.4
p.R144*
c.430C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."