Varaico: Literature-Extracted Genetic Variants

Gene:RAD54L
Variant:p.G235R

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.G235R
c.703G>A
Surrounding Variants
1 paper
NM_003579.4
p.G235R
c.703G>C
1 paper
NM_003579.4
p.G235E
c.704G>A
1 paper
NM_003579.4
p.L234fs
c.700_701fs
1 paper
NM_003579.4
p.L234_G235delFs
c.701_705del5
1 paper
NM_003579.4
p.K232*
c.694A>T
1 paper
NM_003579.4
p.V230A
c.689T>C
1 paper
NM_003579.4
p.V230F
c.688G>T
1 paper
NM_003579.4
p.E229V
c.686A>T
1 paper
NM_003579.4
p.E229K
c.685G>A
1 paper
NM_003579.4
p.A242P
c.724G>C
1 paper
NM_003579.4
p.Y227*
c.681C>A
1 paper
NM_003579.4
p.Y227*
c.681C>G
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