Varaico: Literature-Extracted Genetic Variants

Gene:RAD54L
Variant:p.G484R

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.G484R
c.1450G>C
Surrounding Variants
1 paper
NM_003579.4
p.G484D
c.1451G>A
1 paper
NM_003579.4
p.S487F
c.1460C>T
1 paper
NM_003579.4
p.L478F
c.1434G>C
1 paper
NM_003579.4
p.L478F
c.1434G>T
1 paper
NM_003579.4
p.G476C
c.1426G>T
1 paper
NM_003579.4
p.P492L
c.1475C>T
6 papers
NM_003579.4
p.G496A
c.1487G>C
3 papers
NM_003579.4
p.G496Splc
c.1486+6C>A
1 paper
NM_003579.4
p.E470_E471del2
c.1408_1412del6
1 paper
NM_003579.4
p.E469V
c.1406A>T
1 paper
NM_003579.4
p.V468fs
c.1402_1403fs
1 paper
NM_003579.4
p.V468delFs
c.1403_1404delTG
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