Varaico: Literature-Extracted Genetic Variants

Gene:RAD54L
Variant:p.H340N

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.H340N
c.1018C>A
Surrounding Variants
2 papers
NM_003579.4
p.H340delFs
c.1018delC
1 paper
NM_003579.4
p.V339_H340delins
c.1017_1018delinsCA
2 papers
NM_003579.4
p.L338F
c.1014G>C
2 papers
NM_003579.4
p.L338F
c.1014G>T
1 paper
NM_003579.4
p.N343D
c.1027A>G
3 papers
NM_003579.4
p.G345C
c.1033G>T
1 paper
NM_003579.4
p.E334Q
c.1000G>C
1 paper
NM_003579.4
p.G348Splc
c.1042+1G>T
1 paper
NM_003579.4
p.Q329*
c.985C>T
1 paper
NM_003579.4
p.T326T
c.978T>C
1 paper
NM_003579.4
p.T326P
c.976A>C
6 papers
NM_003579.4
p.G325R
c.973G>A
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