RAD54B

Chr 8

RAD54 homolog B

Also known as: RDH54

The protein encoded by this gene belongs to the DEAD-like helicase superfamily. It shares similarity with Saccharomyces cerevisiae RAD54 and RDH54, both of which are involved in homologous recombination and repair of DNA. This protein binds to double-stranded DNA, and displays ATPase activity in the presence of DNA. This gene is highly expressed in testis and spleen, which suggests active roles in meiotic and mitotic recombination. Homozygous mutations of this gene were observed in primary lymphoma and colon cancer. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…
0
Active trials
18
Pubs (1 yr)
P/LP submissions
P/LP missense
0.86
LOEUF
DN
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
0.86LOEUF
pLI 0.000
Z-score 2.27
OE 0.62 (0.450.86)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.93Z-score
OE missense 0.88 (0.810.95)
402 obs / 457.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.62 (0.450.86)
00.351.4
Missense OE?0.88 (0.810.95)
00.61.4
Synonymous OE?0.93
01.21.6
LoF obs/exp: 26 / 41.9Missense obs/exp: 402 / 457.7Syn Z: 0.68

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

RAD54B · 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

No active trials found for this gene.

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