Varaico: Literature-Extracted Genetic Variants

Gene:HELB
Variant:p.K851N

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.K851N
c.2553G>C
Surrounding Variants
1 paper
NM_001370285.1
p.K851N
c.2553G>T
1 paper
NM_001370285.1
p.I840V
c.2518A>G
1 paper
NM_001370285.1
p.F839F
c.2517C>T
1 paper
NM_001370285.1
p.R824H
c.2471G>A
1 paper
NM_001370285.1
p.F812V
c.2434T>G
1 paper
NM_001370285.1
p.D804G
c.2411A>G
2 papers
NM_001370285.1
p.C781Y
c.2342G>A
1 paper
NM_001370285.1
p.W909*
c.2726G>A
1 paper
NM_001370285.1
p.W909*
c.2727G>A
1 paper
NM_001370285.1
p.V916M
c.2746G>A
1 paper
NM_001370285.1
p.V923M
c.2767G>A
1 paper
NM_001370285.1
p.R701R
c.2103G>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."