Varaico: Literature-Extracted Genetic Variants

Gene:KRT12

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
1–12 of 223 variants
25 papers
NM_000223.4
p.R135T
c.404G>C
16 papers
NM_000223.4
p.L132P
c.395T>C
16 papers
NM_000223.4
p.Y429D
c.1285T>G
15 papers
NM_000223.4
p.M129T
c.386T>C
15 papers
NM_000223.4
p.V143L
c.427G>T
15 papers
NM_000223.4
p.V143L
c.427G>C
12 papers
NM_000223.4
p.Q130P
c.389A>C
12 papers
NM_000223.4
p.R135G
c.403A>G
11 papers
NM_000223.4
p.L140R
c.419T>G
11 papers
NM_000223.4
p.Y429C
c.1286A>G
10 papers
NM_000223.4
p.R135I
c.404G>T
10 papers
NM_000223.4
p.R135S
c.405A>T
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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."