Varaico: Literature-Extracted Genetic Variants

Gene:RAD54L
Variant:p.S38T

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
4 papers
NM_003579.4
p.S38T
c.113G>C
Surrounding Variants
1 paper
NM_003579.4
p.S39N
c.116G>A
1 paper
NM_003579.4
p.T41A
c.121A>G
1 paper
NM_003579.4
p.Q42K
c.124C>A
1 paper
NM_003579.4
p.Q42*
c.124C>T
1 paper
NM_003579.4
p.E45G
c.134A>G
1 paper
NM_003579.4
p.F47I
c.139T>A
1 paper
NM_003579.4
p.P50A
c.148C>G
1 paper
NM_003579.4
p.P50H
c.149C>A
1 paper
NM_003579.4
p.P50L
c.149C>T
1 paper
NM_003579.4
p.R52fs
c.154_155fs
5 papers
NM_003579.4
p.R52W
c.154C>T
1 paper
NM_003579.4
p.K53R
c.158A>G
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