Varaico: Literature-Extracted Genetic Variants

Gene:RAD54L
Variant:p.E206*

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.E206*
c.616G>T
Surrounding Variants
2 papers
NM_003579.4
p.E206A
c.617A>C
1 paper
NM_003579.4
p.C207G
c.619T>G
3 papers
NM_003579.4
p.R202H
c.605G>A
16 papers
NM_003579.4
p.R202C
c.604C>T
1 paper
NM_003579.4
p.E210D
c.630A>C
1 paper
NM_003579.4
p.I211V
c.631A>G
1 paper
NM_003579.4
p.D212H
c.634G>C
1 paper
NM_003579.4
p.K213_A214insT
c.637_641ins3
1 paper
NM_003579.4
p.M197fs
c.589_590fs
1 paper
NM_003579.4
p.M197Fs
c.589_591delinsCFs
1 paper
NM_003579.4
p.I194L
c.580A>C
1 paper
NM_003579.4
p.C193*
c.579C>A
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