Varaico: Literature-Extracted Genetic Variants

Gene:RAD54L
Variant:p.S318R

RAD54L

370 papers

RefSeq Summary

The protein encoded by this gene belongs to the DEAD-like helicase superfamily, and shares similarity with Saccharomyces cerevisiae Rad54, a protein known to be involved in the homologous recombinatio...

Pfam Domains

SNF2-rel_domaa 156–462UCSCSNF2-related domain
Helicase_Caa 496–611UCSCHelicase conserved C-terminal domain

Gene Aliases

HGNC Name

RAD54 like

HGNC Alias Symbols

hHR54; hRAD54; RAD54A

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003579.4
p.S318R
c.952A>C
Surrounding Variants
1 paper
NM_003579.4
p.S318R
c.954C>A
1 paper
NM_003579.4
p.S318R
c.954C>G
2 papers
NM_003579.4
p.R319W
c.955C>T
1 paper
NM_003579.4
p.N316S
c.947A>G
1 paper
NM_003579.4
p.R320W
c.958C>T
2 papers
NM_003579.4
p.R320Q
c.959G>A
1 paper
NM_003579.4
p.L315F
c.945G>C
1 paper
NM_003579.4
p.L315F
c.945G>T
1 paper
NM_003579.4
p.L322F
c.964C>T
6 papers
NM_003579.4
p.G325R
c.973G>A
5 papers
NM_003579.4
p.G325R
c.973G>C
1 paper
NM_003579.4
p.T326P
c.976A>C
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