Varaico: Literature-Extracted Genetic Variants

Gene:RAD54L
Variant:p.F632L

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.F632L
c.1894T>C
Surrounding Variants
1 paper
NM_003579.4
p.F632L
c.1896C>A
1 paper
NM_003579.4
p.F632L
c.1896C>G
1 paper
NM_003579.4
p.Q633*
c.1897C>T
6 papers
NM_003579.4
p.R634C
c.1900C>T
1 paper
NM_003579.4
p.Q635*
c.1903C>T
2 papers
NM_003579.4
p.E628A
c.1883A>C
3 papers
NM_003579.4
p.E629del1
c.1885_1886delGAG
1 paper
NM_003579.4
p.I627T
c.1880T>C
1 paper
NM_003579.4
p.S642insFs
c.1926dupC
1 paper
NM_003579.4
p.S643fs
c.1927_1928fs
1 paper
NM_003579.4
p.E648G
c.1943A>G
1 paper
NM_003579.4
p.R654fs
c.1960_1961fs
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