Varaico: Literature-Extracted Genetic Variants

Gene:RAD54L
Variant:p.V541I

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
2 papers
NM_003579.4
p.V541I
c.1621G>A
Surrounding Variants
10 papers
NM_003579.4
p.R542C
c.1624C>T
3 papers
NM_003579.4
p.R542H
c.1625G>A
1 paper
NM_003579.4
p.Y538fs
c.1612_1613fs
1 paper
NM_003579.4
p.T546M
c.1637C>T
1 paper
NM_003579.4
p.K550_K554insFs
c.1650_1660dup11
2 papers
NM_003579.4
p.R552Q
c.1655G>A
1 paper
NM_003579.4
p.K554fs
c.1660_1661fs
1 paper
NM_003579.4
p.K554R
c.1661A>G
1 paper
NM_003579.4
p.K554N
c.1662G>C
1 paper
NM_003579.4
p.K554N
c.1662G>T
1 paper
NM_003579.4
p.E557A
c.1670A>C
1 paper
NM_003579.4
p.R558C
c.1672C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."