Varaico: Literature-Extracted Genetic Variants

Gene:RAD54L
Variant:p.L621P

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.L621P
c.1862T>C
Surrounding Variants
2 papers
NM_003579.4
p.R620C
c.1858C>T
1 paper
NM_003579.4
p.I618M
c.1854C>G
1 paper
NM_003579.4
p.Y617S
c.1850A>C
1 paper
NM_003579.4
p.C616F
c.1847G>T
1 paper
NM_003579.4
p.K614fs
c.1840_1841fs
1 paper
NM_003579.4
p.K614delFs
c.1841delA
1 paper
NM_003579.4
p.G611insFs
c.1833dupT
1 paper
NM_003579.4
p.D610H
c.1828G>C
4 papers
NM_003579.4
p.R609*
c.1825C>T
1 paper
NM_003579.4
p.V607A
c.1820T>C
1 paper
NM_003579.4
p.R606Q
c.1817G>A
1 paper
NM_003579.4
p.R606L
c.1817G>T
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