Varaico: Literature-Extracted Genetic Variants

Gene:HELB
Variant:p.D506G

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
7 papers
NM_001370285.1
p.D506G
c.1517A>G
Surrounding Variants
3 papers
NM_001370285.1
p.D506A
c.1517A>C
1 paper
NM_001370285.1
p.C504F
c.1511G>T
1 paper
NM_001370285.1
p.C504R
c.1510T>C
1 paper
NM_001370285.1
p.A503S
c.1507G>T
3 papers
NM_001370285.1
p.D510A
c.1529A>C
1 paper
NM_001370285.1
p.K501T
c.1502A>C
3 papers
NM_001370285.1
p.E499A
c.1496A>C
1 paper
NM_001370285.1
p.W517*
c.1550G>A
1 paper
NM_001370285.1
p.W517*
c.1551G>A
2 papers
NM_001370285.1
p.E522fs
c.1564_1565fs
1 paper
NM_001370285.1
p.E522delFs
c.1566delG
1 paper
NM_001370285.1
p.E522D
c.1566G>C
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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."