Varaico: Literature-Extracted Genetic Variants

Gene:NHLRC1
Variant:p.S22R

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
3 papers
NM_198586.3
p.S22R
c.66C>G
Surrounding Variants
3 papers
NM_198586.3
p.S22R
c.66C>A
1 paper
NM_198586.3
p.S22insFs
c.66dupC
3 papers
NM_198586.3
p.S22R
c.64A>C
33 papers
NM_198586.3
p.C26S
c.76T>A
33 papers
NM_198586.3
p.C26S
c.77G>C
3 papers
NM_198586.3
p.C26Y
c.77G>A
5 papers
NM_198586.3
p.C26*
c.78C>A
1 paper
NM_198586.3
p.E18V
c.53A>T
1 paper
NM_198586.3
p.K27E
c.79A>G
1 paper
NM_198586.3
p.E18Q
c.52G>C
1 paper
NM_198586.3
p.K27insFs
c.80dupA
1 paper
NM_198586.3
p.V28M
c.82G>A
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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."