Varaico: Literature-Extracted Genetic Variants

Gene:RAD54L
Variant:p.P694fs

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
2 papers
NM_003579.4
p.P694fs
c.2080_2081fs
Surrounding Variants
1 paper
NM_003579.4
p.P694delFs
c.2081_2082delCT
3 papers
NM_003579.4
p.P694L
c.2081C>T
1 paper
NM_003579.4
p.P693S
c.2077C>T
2 papers
NM_003579.4
p.R691W
c.2071C>T
1 paper
NM_003579.4
p.R691fs
c.2071_2072fs
1 paper
NM_003579.4
p.Q689H
c.2067G>C
1 paper
NM_003579.4
p.Q689H
c.2067G>T
1 paper
NM_003579.4
p.T700A
c.2098A>G
1 paper
NM_003579.4
p.S701L
c.2102C>T
1 paper
NM_003579.4
p.A704G
c.2111C>G
2 papers
NM_003579.4
p.R683H
c.2048G>A
2 papers
NM_003579.4
p.R683C
c.2047C>T
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