Varaico: Literature-Extracted Genetic Variants

Gene:HELB
Variant:p.V916M

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.V916M
c.2746G>A
Surrounding Variants
1 paper
NM_001370285.1
p.W909*
c.2727G>A
1 paper
NM_001370285.1
p.W909*
c.2726G>A
1 paper
NM_001370285.1
p.V923M
c.2767G>A
1 paper
NM_001370285.1
p.L932L
c.2796C>G
1 paper
NM_001370285.1
p.R943*
c.2827A>T
1 paper
NM_001370285.1
p.R946H
c.2837G>A
1 paper
NM_001370285.1
p.S958N
c.2873G>A
2 papers
NM_001370285.1
p.G959S
c.2875G>A
1 paper
NM_001370285.1
p.P962Q
c.2885C>A
2 papers
NM_001370285.1
p.P966L
c.2897C>T
1 paper
NM_001370285.1
p.G973A
c.2918G>C
3 papers
NM_001370285.1
p.T980I
c.2939C>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."