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.Y258*

c.774T>A

Surrounding Variants

1 paper

NM_012415.3

p.Y258*

c.774T>G

1 paper

NM_012415.3

p.R254H

c.761G>A

2 papers

NM_012415.3

p.N250N

c.750T>C

1 paper

NM_012415.3

p.F248insFs

c.742_743insA

1 paper

NM_012415.3

p.Q245*

c.733C>T

1 paper

NM_012415.3

p.E242*

c.724G>T

1 paper

NM_012415.3

p.S239del1

c.715_716delACT

1 paper

NM_012415.3

p.S229F

c.686C>T

1 paper

NM_012415.3

p.F228L

c.684C>G

1 paper

NM_012415.3

p.F228L

c.684C>A

1 paper

NM_012415.3

p.F228L

c.682T>C

1 paper

NM_012415.3

p.V223_A224del1

c.669_671delGCA