Varaico: Literature-Extracted Genetic Variants

Gene:RAD54L
Variant:p.S218L

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
2 papers
NM_003579.4
p.S218L
c.653C>T
Surrounding Variants
1 paper
NM_003579.4
p.S221N
c.662G>A
1 paper
NM_003579.4
p.K213_A214insT
c.637_641ins3
1 paper
NM_003579.4
p.D212H
c.634G>C
1 paper
NM_003579.4
p.I211V
c.631A>G
1 paper
NM_003579.4
p.E210D
c.630A>C
1 paper
NM_003579.4
p.Y227*
c.681C>A
1 paper
NM_003579.4
p.Y227*
c.681C>G
1 paper
NM_003579.4
p.E229K
c.685G>A
1 paper
NM_003579.4
p.E229V
c.686A>T
1 paper
NM_003579.4
p.C207G
c.619T>G
1 paper
NM_003579.4
p.V230F
c.688G>T
2 papers
NM_003579.4
p.E206A
c.617A>C
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