Varaico: Literature-Extracted Genetic Variants

Gene:KRT12
Variant:p.L433R

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
7 papers
NM_000223.4
p.L433R
c.1298T>G
Surrounding Variants
1 paper
NM_000223.4
p.L432P
c.1295T>C
2 papers
NM_000223.4
p.R430_R431delins
c.1288_1293delinsAGCCCT
1 paper
NM_000223.4
p.R431P
c.1292G>C
8 papers
NM_000223.4
p.R430P
c.1289G>C
1 paper
NM_000223.4
p.R430S
c.1288C>A
11 papers
NM_000223.4
p.Y429C
c.1286A>G
16 papers
NM_000223.4
p.Y429D
c.1285T>G
6 papers
NM_000223.4
p.I426S
c.1277T>G
9 papers
NM_000223.4
p.I426V
c.1276A>G
2 papers
NM_000223.4
p.E425K
c.1273G>A
1 paper
NM_000223.4
p.L415L
c.1245G>A
3 papers
NM_000223.4
p.V410G
c.1229T>G
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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."