Varaico: Literature-Extracted Genetic Variants

Gene:HELB
Variant:p.D117Y

HELB

78 papers

RefSeq Summary

This gene encodes a DNA-dependent ATPase which catalyzes the unwinding of DNA necessary for DNA replication, repair, recombination, and transcription. This gene is thought to function specifically dur...

Pfam Domains

WHD_HELBaa 244–354UCSCDNA helicase B winged helix domain
AAA_30aa 453–681UCSCAAA domain

Gene Aliases

HGNC Name

DNA helicase B

HGNC Previous Name

helicase (DNA) B

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001370285.1
p.D117Y
c.349G>T
Surrounding Variants
1 paper
NM_001370285.1
p.N122Y
c.364A>T
1 paper
NM_001370285.1
p.V93I
c.277G>A
1 paper
NM_001370285.1
p.F80Y
c.239T>A
1 paper
NM_001370285.1
p.L189S
c.566T>C
4 papers
NM_001370285.1
p.L191P
c.572T>C
1 paper
NM_001370285.1
p.M195L
c.583A>C
1 paper
NM_001370285.1
p.M195L
c.583A>T
1 paper
NM_001370285.1
p.P215S
c.643C>T
1 paper
NM_001370285.1
p.L221R
c.662T>G
1 paper
NM_001370285.1
p.R227G
c.679C>G
1 paper
NM_001370285.1
p.S235T
c.703T>A
1 paper
NM_001370285.1
p.P252P
c.756G>A
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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."