Varaico: Literature-Extracted Genetic Variants

Gene:NHLRC1
Variant:p.P129H

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
11 papers
NM_198586.3
p.P129H
c.386C>A
Surrounding Variants
2 papers
NM_198586.3
p.P129S
c.385C>T
1 paper
NM_198586.3
p.N128I
c.383A>T
4 papers
NM_198586.3
p.G131*
c.391G>T
1 paper
NM_198586.3
p.G131A
c.392G>C
1 paper
NM_198586.3
p.G131G
c.393A>T
2 papers
NM_198586.3
p.L126fs
c.376_377fs
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.G124G
c.372G>C
1 paper
NM_198586.3
p.L134F
c.400C>T
1 paper
NM_198586.3
p.G122insFs
c.365_366insGT
1 paper
NM_198586.3
p.P136fs
c.406_407fs
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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."