Varaico: Literature-Extracted Genetic Variants

Gene:KRT12
Variant:p.R135S

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
9 papers
NM_000223.4
p.R135S
c.405A>C
Surrounding Variants
10 papers
NM_000223.4
p.R135S
c.405A>T
10 papers
NM_000223.4
p.R135I
c.404G>T
25 papers
NM_000223.4
p.R135T
c.404G>C
12 papers
NM_000223.4
p.R135G
c.403A>G
9 papers
NM_000223.4
p.A137P
c.409G>C
2 papers
NM_000223.4
p.A137T
c.409G>A
9 papers
NM_000223.4
p.N133K
c.399T>G
9 papers
NM_000223.4
p.N133K
c.399T>A
1 paper
NM_000223.4
p.Y139D
c.415T>G
16 papers
NM_000223.4
p.L132P
c.395T>C
6 papers
NM_000223.4
p.L132H
c.395T>A
3 papers
NM_000223.4
p.L132V
c.394C>G
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."