Varaico: Literature-Extracted Genetic Variants

Gene:GRXCR2
Variant:p.K22R

GRXCR2

35 papers

RefSeq Summary

This gene encodes a protein containing a glutaredoxin domain, which functions in protein S-glutathionylation. A mutation in this gene was found in a family with autoosomal recessive nonsyndromic senso...

Pfam Domains

GRXCR1-2_Caa 197–247UCSCGRXCR1/2, C-terminal domain

Gene Aliases

HGNC Name

glutaredoxin and cysteine rich domain containing 2

HGNC Alias Symbol

DFNB101

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001080516.2
p.K22R
c.65A>G
Surrounding Variants
1 paper
NM_001080516.2
p.R17Q
c.50G>A
1 paper
NM_001080516.2
p.R30*
c.88C>T
1 paper
NM_001080516.2
p.E5Q
c.13G>C
1 paper
NM_001080516.2
p.E48K
c.142G>A
1 paper
NM_001080516.2
p.P50S
c.148C>T
2 papers
NM_001080516.2
p.S52N
c.155G>A
1 paper
NM_001080516.2
p.L54L
c.160C>T
1 paper
NM_001080516.2
p.M61T
c.182T>C
1 paper
NM_001080516.2
p.E69K
c.205G>A
3 papers
NM_001080516.2
p.Q74E
c.220C>G
1 paper
NM_001080516.2
p.M75I
c.225G>T
1 paper
NM_001080516.2
p.M75I
c.225G>C
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."