Varaico: Literature-Extracted Genetic Variants

Gene:NHLRC1
Variant:p.C116*

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.C116*
c.348C>A
Surrounding Variants
1 paper
NM_198586.3
p.H117fs
c.349_350fs
2 papers
NM_198586.3
p.H117insFs
c.349_350insC
1 paper
NM_198586.3
p.L114R
c.341T>G
1 paper
NM_198586.3
p.F120fs
c.358_359fs
1 paper
NM_198586.3
p.G112_A113insFs
c.336_337insA
5 papers
NM_198586.3
p.G121S
c.361G>A
2 papers
NM_198586.3
p.P111insFs
c.333dupC
1 paper
NM_198586.3
p.G112R
c.334G>A
1 paper
NM_198586.3
p.P111delFs
c.331delG
1 paper
NM_198586.3
p.P111delFs
c.332_333delGG
1 paper
NM_198586.3
p.G122R
c.364G>C
10 papers
NM_198586.3
p.P111L
c.332C>T
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