Varaico: Literature-Extracted Genetic Variants

Gene:GRXCR1
Variant:p.L223Q

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.L223Q
c.668T>A
Surrounding Variants
1 paper
NM_001080476.3
p.G221E
c.662G>A
1 paper
NM_001080476.3
p.G221_E222del1
c.662_664delGAG
3 papers
NM_001080476.3
p.E219K
c.655G>A
1 paper
NM_001080476.3
p.L215F
c.645G>T
1 paper
NM_001080476.3
p.E231_R232Splc
c.693+1G>A
1 paper
NM_001080476.3
p.G210fs
c.628_629fs
1 paper
NM_001080476.3
p.G209_G210Splc
c.628-1G>C
5 papers
NM_001080476.3
p.G209_G210Splc
c.628-9C>A
1 paper
NM_001080476.3
p.H235R
c.704A>G
1 paper
NM_001080476.3
p.P236Q
c.707C>A
1 paper
NM_001080476.3
p.H237delFs
c.710_711delAT
1 paper
NM_001080476.3
p.H237fs
c.709_710fs
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."