Varaico: Literature-Extracted Genetic Variants

Gene:RAD54B
Variant:p.R530delFs

RAD54B

140 papers

RefSeq Summary

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 recombinati...

Pfam Domains

SNF2-rel_domaa 299–597UCSCSNF2-related domain
SNF2-rel_domaa 299–597UCSCSNF2-related domain
Helicase_Caa 642–758UCSCHelicase conserved C-terminal domain

Gene Aliases

HGNC Name

RAD54 homolog B

HGNC Alias Symbol

RDH54

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_012415.3
p.R530delFs
c.1588delT
Surrounding Variants
1 paper
NM_012415.3
p.Q532K
c.1594C>A
1 paper
NM_012415.3
p.L528V
c.1582C>G
1 paper
NM_012415.3
p.L525R
c.1574T>G
1 paper
NM_012415.3
p.T523_G524delFs
c.1569_1570delCA
1 paper
NM_012415.3
p.T523fs
c.1567_1568fs
1 paper
NM_012415.3
p.L539F
c.1615C>T
1 paper
NM_012415.3
p.T520_C521delFs
c.1558_1561del4
1 paper
NM_012415.3
p.T520fs
c.1558_1559fs
1 paper
NM_012415.3
p.L511_R515delFs
c.1531_1544del14
1 paper
NM_012415.3
p.N545S
c.1634A>G
1 paper
NM_012415.3
p.R515*
c.1543A>T
1 paper
NM_012415.3
p.L511fs
c.1531_1532fs
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