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.Q390E

c.1168C>G

Surrounding Variants

1 paper

NM_012415.3

p.E381Q

c.1141G>C

1 paper

NM_012415.3

p.W377fs

c.1129_1130fs

1 paper

NM_012415.3

p.K376_W377insFs

c.1128_1129insA

1 paper

NM_012415.3

p.Q375*

c.1123C>T

3 papers

NM_012415.3

p.K352R

c.1055A>G

1 paper

NM_012415.3

p.P348T

c.1042C>A

2 papers

NM_012415.3

p.L334W

c.1001T>G

2 papers

NM_012415.3

p.K332R

c.995A>G

1 paper

NM_012415.3

p.Q390_D391Splc

c.1171-6C>T

1 paper

NM_012415.3

p.H392Y

c.1174C>T

1 paper

NM_012415.3

p.Y403delFs

c.1209delA

3 papers

NM_012415.3

p.I407_I408del1

c.1221_1223delATA