Varaico: Literature-Extracted Genetic Variants

Gene:GRXCR2
Variant:p.A229V

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
1 paper
NM_001080516.2
p.A229V
c.686C>T
Surrounding Variants
1 paper
NM_001080516.2
p.R228W
c.682C>T
1 paper
NM_001080516.2
p.Y227C
c.680A>G
1 paper
NM_001080516.2
p.E225A
c.674A>C
1 paper
NM_001080516.2
p.E237*
c.709G>T
5 papers
NM_001080516.2
p.N238insFs
c.714dupT
1 paper
NM_001080516.2
p.S203L
c.608C>T
1 paper
NM_001080516.2
p.C200*
c.600C>A
1 paper
NM_001080516.2
p.E194D
c.582G>T
1 paper
NM_001080516.2
p.E194D
c.582G>C
1 paper
NM_001080516.2
p.E194K
c.580G>A
1 paper
NM_001080516.2
p.D191V
c.572A>T
1 paper
NM_001080516.2
p.Q188_E189Splc
c.565-7C>G
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