Varaico: Literature-Extracted Genetic Variants

Gene:RAD54L
Variant:p.D527fs

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.D527fs
c.1579_1580fs
Surrounding Variants
1 paper
NM_003579.4
p.D527_E530delFs
c.1579_1589del11
1 paper
NM_003579.4
p.L526W
c.1577T>G
1 paper
NM_003579.4
p.S520L
c.1559C>T
1 paper
NM_003579.4
p.R534S
c.1600C>A
2 papers
NM_003579.4
p.R534H
c.1601G>A
1 paper
NM_003579.4
p.V519V
c.1557G>A
1 paper
NM_003579.4
p.R536*
c.1606C>T
1 paper
NM_003579.4
p.R536Q
c.1607G>A
2 papers
NM_003579.4
p.R537Splc
c.1610+1G>A
2 papers
NM_003579.4
p.V516fs
c.1546_1547fs
1 paper
NM_003579.4
p.V516delFs
c.1546delG
1 paper
NM_003579.4
p.K515R
c.1544A>G
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