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.Y403delFs

c.1209delA

Surrounding Variants

3 papers

NM_012415.3

p.I407_I408del1

c.1221_1223delATA

2 papers

NM_012415.3

p.I408del1

c.1222_1223delGAT

1 paper

NM_012415.3

p.I407_I408del2

c.1219_1223del6

2 papers

NM_012415.3

p.R415H

c.1244G>A

1 paper

NM_012415.3

p.H392Y

c.1174C>T

3 papers

NM_012415.3

p.D418Y

c.1252G>T

1 paper

NM_012415.3

p.Q419*

c.1255C>T

1 paper

NM_012415.3

p.Q390_D391Splc

c.1171-6C>T

1 paper

NM_012415.3

p.L428V

c.1282C>G

1 paper

NM_012415.3

p.A440P

c.1318G>C

1 paper

NM_012415.3

p.A446P

c.1336G>C

2 papers

NM_012415.3

p.T459I

c.1376C>T