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

1–12 of 179 variants

10 papers

NM_012415.3

p.N593S

c.1778A>G

6 papers

NM_012415.3

p.L30V

c.88C>G

3 papers

NM_012415.3

p.K352R

c.1055A>G

3 papers

NM_012415.3

p.I407_I408del1

c.1221_1223delATA

3 papers

NM_012415.3

p.D418Y

c.1252G>T

3 papers

NM_012415.3

p.E506_E507Splc

c.1519-5C>T

3 papers

NM_012415.3

p.I778V

c.2332A>G

2 papers

NM_012415.3

p.R3*

c.7C>T

2 papers

NM_012415.3

p.P55L

c.164C>T

2 papers

NM_012415.3

p.D97H

c.289G>C

2 papers

NM_012415.3

p.K189R

c.566A>G

2 papers

NM_012415.3

p.N250N

c.750T>C