GRXCR2

Chr 5AR

glutaredoxin and cysteine rich domain containing 2

Also known as: DFNB101

NCBI Gene: 643226ENSG00000204928UniProt: A6NFK2OMIM: 615762

This gene encodes a protein containing a glutaredoxin domain, which functions in protein S-glutathionylation. A mutation in this gene was found in a family with autoosomal recessive nonsyndromic sensorineural deafness-101. [provided by RefSeq, Jun 2014]

OMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

?Deafness, autosomal recessive 101MIM #615837
AR

Clinical highlights

Gene-disease validity (ClinGen)
nonsyndromic genetic hearing loss · ARModerateconsider for supplementary testing
0
Active trials
0
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.57
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.57LOEUF
pLI 0.000
Z-score 0.13
OE 0.96 (0.60–1.57)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.85Z-score
OE missense 1.20 (1.06–1.37)
167 obs / 138.7 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.96 (0.60–1.57)
0≤0.351.4
Missense OE?1.20 (1.06–1.37)
0≤0.61.4
Synonymous OE?1.15
0≤1.21.6
LoF obs/exp: 11 / 11.5Missense obs/exp: 167 / 138.7Syn Z: -0.87

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

GRXCR2 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients