Varaico: Literature-Extracted Genetic Variants

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

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.C207G

c.619T>G

Surrounding Variants

1 paper

NM_012415.3

p.C207R

c.619T>C

1 paper

NM_012415.3

p.Q209*

c.625C>T

1 paper

NM_012415.3

p.L210L

c.630T>A

1 paper

NM_012415.3

p.G212V

c.635G>T

1 paper

NM_012415.3

p.G213R

c.637G>A

1 paper

NM_012415.3

p.G213E

c.638G>A

1 paper

NM_012415.3

p.S198F

c.593C>T

1 paper

NM_012415.3

p.I217T

c.650T>C

1 paper

NM_012415.3

p.V196I

c.586G>A

1 paper

NM_012415.3

p.S218S

c.654G>A

1 paper

NM_012415.3

p.H219Y

c.655C>T

1 paper

NM_012415.3

p.H219N

c.655C>A