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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RAD54L

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

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 430 variants

16 papers

chr1:46260853 C>T

NM_003579.4

p.R202C

c.604C>T

SNF2-rel_dom

Exome: 0.4% (AC=5550, hom=15)Genome: 0.3% (AC=400, hom=0)165 overlapping SVs

10 papers

chr1:46274151 C>T

NM_003579.4

p.R542C

c.1624C>T

Helicase_C

Exome: 0.0% (AC=74, hom=0)Genome: 0.0% (AC=6, hom=0)167 overlapping SVs

7 papers

chr1:46248570 A>G

NM_003579.4

p.D21G

c.62A>G

Exome: 1.5% (AC=21881, hom=211)Genome: 1.0% (AC=1467, hom=10)165 overlapping SVs

7 papers

chr1:46270754 C>T

NM_003579.4

p.R380W

c.1138C>T

SNF2-rel_dom

Exome: 0.0% (AC=167, hom=0)Genome: 0.0% (AC=8, hom=0)167 overlapping SVs

7 papers

chr1:46273662 C>T

NM_003579.4

p.R509*

c.1525C>T

Helicase_C

Exome: 0.0% (AC=176, hom=0)Genome: 0.0% (AC=6, hom=0)167 overlapping SVs

6 papers

chr1:46250097 C>A

NM_003579.4

p.P63H

c.188C>A

Exome: 0.0% (AC=15, hom=0)Genome: n/a165 overlapping SVs

6 papers

chr1:46260815 A>G

NM_003579.4

p.K189R

c.566A>G

SNF2-rel_dom

exact variant not in gnomAD165 overlapping SVs

6 papers

chr1:46267540 G>A

NM_003579.4

p.G325R

c.973G>A

SNF2-rel_dom

Exome: 0.0% (AC=6, hom=0)Genome: 0.0% (AC=2, hom=0)166 overlapping SVs

6 papers

chr1:46273466 G>C

NM_003579.4

p.G496A

c.1487G>C

exact variant not in gnomAD167 overlapping SVs

6 papers

chr1:46274596 T>C

NM_003579.4

p.I583T

c.1748T>C

Helicase_C

Exome: 0.0% (AC=287, hom=1)Genome: 0.0% (AC=46, hom=1)167 overlapping SVs

6 papers

chr1:46274710 T>C

NM_003579.4

p.L621P

c.1862T>C

Exome: 0.0% (AC=16, hom=0)Genome: n/a167 overlapping SVs

6 papers

chr1:46277847 C>T

NM_003579.4

p.R634C

c.1900C>T

Exome: 0.0% (AC=9, hom=0)Genome: 0.0% (AC=4, hom=0)167 overlapping SVs

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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."