Varaico: Literature-Extracted Genetic Variants

Gene:HELB
Variant:p.T421delFs

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.T421delFs
c.1263delA
Surrounding Variants
1 paper
NM_001370285.1
p.E409K
c.1225G>A
1 paper
NM_001370285.1
p.P407L
c.1220C>T
1 paper
NM_001370285.1
p.C466R
c.1396T>C
1 paper
NM_001370285.1
p.I367delFs
c.1100delT
1 paper
NM_001370285.1
p.A364T
c.1090G>A
1 paper
NM_001370285.1
p.R487C
c.1459C>T
1 paper
NM_001370285.1
p.C350Y
c.1049G>A
3 papers
NM_001370285.1
p.E499A
c.1496A>C
1 paper
NM_001370285.1
p.K501T
c.1502A>C
1 paper
NM_001370285.1
p.A503S
c.1507G>T
1 paper
NM_001370285.1
p.L338F
c.1014G>T
1 paper
NM_001370285.1
p.C504R
c.1510T>C
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