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.L30Q

c.89T>A

Surrounding Variants

6 papers

NM_012415.3

p.L30V

c.88C>G

1 paper

NM_012415.3

p.E32K

c.94G>A

1 paper

NM_012415.3

p.P18L

c.53C>T

1 paper

NM_012415.3

p.F44L

c.132T>A

1 paper

NM_012415.3

p.R3Q

c.8G>A

2 papers

NM_012415.3

p.R3*

c.7C>T

2 papers

NM_012415.3

p.P55L

c.164C>T

1 paper

NM_012415.3

p.L60fs

c.178_179fs

1 paper

NM_012415.3

p.S69T

c.206G>C

1 paper

NM_012415.3

p.D80delFs

c.239delT

1 paper

NM_012415.3

p.S83G

c.247A>G

1 paper

NM_012415.3

p.L93P

c.278T>C