Varaico: Literature-Extracted Genetic Variants

Gene:HELB
Variant:p.L604fs

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.L604fs
c.1810_1811fs
Surrounding Variants
1 paper
NM_001370285.1
p.L604_N605delFs
c.1810_1814del5
1 paper
NM_001370285.1
p.K615E
c.1843A>G
1 paper
NM_001370285.1
p.E591Q
c.1771G>C
1 paper
NM_001370285.1
p.N576S
c.1727A>G
1 paper
NM_001370285.1
p.S567L
c.1700C>T
1 paper
NM_001370285.1
p.D621N
c.1861G>A
1 paper
NM_001370285.1
p.I648V
c.1942A>G
1 paper
NM_001370285.1
p.R667K
c.2000G>A
1 paper
NM_001370285.1
p.T557S
c.1669A>T
1 paper
NM_001370285.1
p.G552C
c.1654G>T
1 paper
NM_001370285.1
p.P539H
c.1616C>A
1 paper
NM_001370285.1
p.P539R
c.1616C>G
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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."