Varaico: Literature-Extracted Genetic Variants

Gene:RAD54L
Variant:p.S170I

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.S170I
c.509G>T
Surrounding Variants
1 paper
NM_003579.4
p.R171W
c.511C>T
1 paper
NM_003579.4
p.R171Q
c.512G>A
1 paper
NM_003579.4
p.R172H
c.515G>A
1 paper
NM_003579.4
p.I173V
c.517A>G
1 paper
NM_003579.4
p.C167S
c.500G>C
1 paper
NM_003579.4
p.C167F
c.500G>T
1 paper
NM_003579.4
p.C167S
c.499T>A
3 papers
NM_003579.4
p.E166K
c.496G>A
2 papers
NM_003579.4
p.W165L
c.494G>T
2 papers
NM_003579.4
p.C179_D183insFs
c.537_547dup11
1 paper
NM_003579.4
p.G160E
c.479G>A
1 paper
NM_003579.4
p.A182T
c.544G>A
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