Varaico: Literature-Extracted Genetic Variants

Gene:RAD54L
Variant:p.K189R

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
6 papers
NM_003579.4
p.K189R
c.566A>G
Surrounding Variants
1 paper
NM_003579.4
p.K189E
c.565A>G
1 paper
NM_003579.4
p.T190M
c.569C>T
1 paper
NM_003579.4
p.Q192insFs
c.575dupA
1 paper
NM_003579.4
p.Q192R
c.575A>G
1 paper
NM_003579.4
p.C193S
c.577T>A
1 paper
NM_003579.4
p.C193Y
c.578G>A
1 paper
NM_003579.4
p.C193S
c.578G>C
1 paper
NM_003579.4
p.M185T
c.554T>C
1 paper
NM_003579.4
p.C193*
c.579C>A
1 paper
NM_003579.4
p.I194L
c.580A>C
3 papers
NM_003579.4
p.E184G
c.551A>G
3 papers
NM_003579.4
p.D183fs
c.547_548fs
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