Varaico: Literature-Extracted Genetic Variants

Gene:RAD54L
Variant:p.Q157delFs

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.Q157delFs
c.470_471delAG
Surrounding Variants
1 paper
NM_003579.4
p.P155T
c.463C>A
1 paper
NM_003579.4
p.P155S
c.463C>T
2 papers
NM_003579.4
p.E159*
c.475G>T
2 papers
NM_003579.4
p.R154Q
c.461G>A
4 papers
NM_003579.4
p.R154W
c.460C>T
1 paper
NM_003579.4
p.E159_G160Splc
c.477+6T>C
1 paper
NM_003579.4
p.K151Q
c.451A>C
3 papers
NM_003579.4
p.K151E
c.451A>G
1 paper
NM_003579.4
p.P147R
c.440C>G
1 paper
NM_003579.4
p.V145I
c.433G>A
1 paper
NM_003579.4
p.V141F
c.421G>T
1 paper
NM_003579.4
p.L139I
c.415C>A
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