Varaico: Literature-Extracted Genetic Variants

Gene:GRXCR1
Variant:p.G209_G210Splc

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
2 papers
NM_001080476.3
p.G209_G210Splc
c.627+19A>T
Surrounding Variants
1 paper
NM_001080476.3
p.G209_G210Splc
c.627+8A>C
1 paper
NM_001080476.3
p.G209_G210Splc
c.627+8A>T
1 paper
NM_001080476.3
p.Y207D
c.619T>G
1 paper
NM_001080476.3
p.V201A
c.602T>C
1 paper
NM_001080476.3
p.P199S
c.595C>T
1 paper
NM_001080476.3
p.R191Q
c.572G>A
1 paper
NM_001080476.3
p.R190Q
c.569G>A
3 papers
NM_001080476.3
p.R190*
c.568C>T
1 paper
NM_001080476.3
p.R188*
c.562C>T
1 paper
NM_001080476.3
p.E187K
c.559G>A
1 paper
NM_001080476.3
p.A176_R191del16
c.526_572del48
1 paper
NM_001080476.3
p.R167H
c.500G>A
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