Varaico: Literature-Extracted Genetic Variants

Gene:RAD54L
Variant:p.P63H

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
6 papers
NM_003579.4
p.P63H
c.188C>A
Surrounding Variants
1 paper
NM_003579.4
p.Q61H
c.183A>C
1 paper
NM_003579.4
p.Q61H
c.183A>T
1 paper
NM_003579.4
p.T59A
c.175A>G
1 paper
NM_003579.4
p.S68T
c.203G>C
1 paper
NM_003579.4
p.H70Y
c.208C>T
4 papers
NM_003579.4
p.K53N
c.159A>C
1 paper
NM_003579.4
p.H70_E71Splc
c.210+7C>T
1 paper
NM_003579.4
p.K53R
c.158A>G
1 paper
NM_003579.4
p.R52fs
c.154_155fs
5 papers
NM_003579.4
p.R52W
c.154C>T
1 paper
NM_003579.4
p.P50H
c.149C>A
1 paper
NM_003579.4
p.P50L
c.149C>T
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