Varaico: Literature-Extracted Genetic Variants

Gene:GRXCR1
Variant:p.R262R

GRXCR1

96 papers

RefSeq Summary

This gene is one of 60 loci associated with autosomal-recessive nonsyndromic hearing impairment. This gene encodes a protein which contains GRX-like domains; these domains play a role in the S-glutath...

Pfam Domains

Glutaredoxinaa 139–208UCSCGlutaredoxin
GRXCR1-2_Caa 239–289UCSCGRXCR1/2, C-terminal domain

Gene Aliases

HGNC Name

glutaredoxin and cysteine rich domain containing 1

HGNC Previous Symbol

DFNB25

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001080476.3
p.R262R
c.784C>A
Surrounding Variants
8 papers
NM_001080476.3
p.R262*
c.784C>T
4 papers
NM_001080476.3
p.R262Q
c.785G>A
1 paper
NM_001080476.3
p.M260L
c.778A>C
1 paper
NM_001080476.3
p.M260L
c.778A>T
1 paper
NM_001080476.3
p.M258L
c.772A>C
1 paper
NM_001080476.3
p.M258L
c.772A>T
1 paper
NM_001080476.3
p.S268P
c.802T>C
1 paper
NM_001080476.3
p.C274R
c.820T>C
3 papers
NM_001080476.3
p.T275M
c.824C>T
1 paper
NM_001080476.3
p.F247I
c.739T>A
1 paper
NM_001080476.3
p.G281C
c.841G>T
1 paper
NM_001080476.3
p.G281G
c.843T>G
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