Varaico: Literature-Extracted Genetic Variants

Gene:NHLRC1
Variant:p.F120fs

NHLRC1

265 papers

RefSeq Summary

The protein encoded by this gene is a single subunit E3 ubiquitin ligase. Laforin is polyubiquitinated by the encoded protein. Defects in this intronless gene lead to an accumulation of laforin and on...

Pfam Domains

zf-RING_5aa 25–73UCSCzinc-RING finger domain

Gene Aliases

HGNC Name

NHL repeat containing E3 ubiquitin protein ligase 1

HGNC Alias Symbols

bA204B7.2; EPM2B

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_198586.3
p.F120fs
c.358_359fs
Surrounding Variants
5 papers
NM_198586.3
p.G121S
c.361G>A
1 paper
NM_198586.3
p.G122R
c.364G>C
1 paper
NM_198586.3
p.G121_G122insFs
c.363_364dupCG
1 paper
NM_198586.3
p.G122insFs
c.365_366insGT
2 papers
NM_198586.3
p.H117insFs
c.349_350insC
1 paper
NM_198586.3
p.H117fs
c.349_350fs
1 paper
NM_198586.3
p.C116*
c.348C>A
2 papers
NM_198586.3
p.G124G
c.372G>C
1 paper
NM_198586.3
p.L114R
c.341T>G
1 paper
NM_198586.3
p.L126R
c.377T>G
4 papers
NM_198586.3
p.L126P
c.377T>C
2 papers
NM_198586.3
p.L126fs
c.376_377fs
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