Varaico: Literature-Extracted Genetic Variants

Gene:RAD54L
Variant:p.N596T

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.N596T
c.1787A>C
Surrounding Variants
1 paper
NM_003579.4
p.P597T
c.1789C>A
1 paper
NM_003579.4
p.P597S
c.1789C>T
1 paper
NM_003579.4
p.D594N
c.1780G>A
1 paper
NM_003579.4
p.D592V
c.1775A>T
1 paper
NM_003579.4
p.F591fs
c.1771_1772fs
1 paper
NM_003579.4
p.A603delFs
c.1807delG
1 paper
NM_003579.4
p.A603fs
c.1807_1808fs
1 paper
NM_003579.4
p.M604K
c.1811T>A
5 papers
NM_003579.4
p.R587W
c.1759C>T
1 paper
NM_003579.4
p.R606W
c.1816C>T
1 paper
NM_003579.4
p.R606Q
c.1817G>A
1 paper
NM_003579.4
p.R606L
c.1817G>T
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