Varaico: Literature-Extracted Genetic Variants

Gene:RAD54L
Variant:p.T508I

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.T508I
c.1523C>T
Surrounding Variants
7 papers
NM_003579.4
p.R509*
c.1525C>T
1 paper
NM_003579.4
p.R509Q
c.1526G>A
1 paper
NM_003579.4
p.A506V
c.1517C>T
1 paper
NM_003579.4
p.L505P
c.1514T>C
1 paper
NM_003579.4
p.I504T
c.1511T>C
1 paper
NM_003579.4
p.D514E
c.1542C>A
1 paper
NM_003579.4
p.D514E
c.1542C>G
1 paper
NM_003579.4
p.K515R
c.1544A>G
1 paper
NM_003579.4
p.V516delFs
c.1546delG
2 papers
NM_003579.4
p.V516fs
c.1546_1547fs
1 paper
NM_003579.4
p.V500F
c.1498G>T
1 paper
NM_003579.4
p.V519V
c.1557G>A
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