Varaico: Literature-Extracted Genetic Variants

Gene:GRXCR1
Variant:p.R138H

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.R138H
c.413G>A
Surrounding Variants
5 papers
NM_001080476.3
p.R138C
c.412C>T
2 papers
NM_001080476.3
p.Y142C
c.425A>G
2 papers
NM_001080476.3
p.T132A
c.394A>G
8 papers
NM_001080476.3
p.R147C
c.439C>T
1 paper
NM_001080476.3
p.Q128_Q129Splc
c.385-6C>T
3 papers
NM_001080476.3
p.R150W
c.448C>T
1 paper
NM_001080476.3
p.R150Q
c.449G>A
4 papers
NM_001080476.3
p.F153V
c.457T>G
1 paper
NM_001080476.3
p.N165S
c.494A>G
1 paper
NM_001080476.3
p.R167H
c.500G>A
1 paper
NM_001080476.3
p.A176_R191del16
c.526_572del48
1 paper
NM_001080476.3
p.E187K
c.559G>A
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