Varaico: Literature-Extracted Genetic Variants

Gene:GRXCR1
Variant:p.S44S

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.S44S
c.132T>A
Surrounding Variants
1 paper
NM_001080476.3
p.C46Y
c.137G>A
2 papers
NM_001080476.3
p.A47V
c.140C>T
3 papers
NM_001080476.3
p.P38L
c.113C>T
1 paper
NM_001080476.3
p.G51E
c.152G>A
1 paper
NM_001080476.3
p.D53N
c.157G>A
1 paper
NM_001080476.3
p.G54R
c.160G>A
1 paper
NM_001080476.3
p.G54R
c.160G>C
1 paper
NM_001080476.3
p.E34K
c.100G>A
1 paper
NM_001080476.3
p.V32M
c.94G>A
1 paper
NM_001080476.3
p.E31G
c.92A>G
1 paper
NM_001080476.3
p.D59_G64delFs
c.176_191del16
1 paper
NM_001080476.3
p.D59N
c.175G>A
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