Varaico: Literature-Extracted Genetic Variants

Gene:GRXCR1
Variant:p.R14_F18delFs

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.R14_F18delFs
c.42_52del11
Surrounding Variants
1 paper
NM_001080476.3
p.R14Q
c.41G>A
1 paper
NM_001080476.3
p.P13S
c.37C>T
1 paper
NM_001080476.3
p.R12delFs
c.35delG
1 paper
NM_001080476.3
p.R17W
c.49C>T
1 paper
NM_001080476.3
p.R19W
c.55C>T
3 papers
NM_001080476.3
p.R19Q
c.56G>A
7 papers
NM_001080476.3
p.E9K
c.25G>A
1 paper
NM_001080476.3
p.A21T
c.61G>A
1 paper
NM_001080476.3
p.A21V
c.62C>T
1 paper
NM_001080476.3
p.A21A
c.63G>A
1 paper
NM_001080476.3
p.E5Q
c.13G>C
1 paper
NM_001080476.3
p.K3T
c.8A>C
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