Varaico: Literature-Extracted Genetic Variants

Gene:NHLRC1

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
1–12 of 325 variants
37 papers
NM_198586.3
p.D146N
c.436G>A
34 papers
NM_198586.3
p.P69A
c.205C>G
33 papers
NM_198586.3
p.C26S
c.76T>A
33 papers
NM_198586.3
p.C26S
c.77G>C
14 papers
NM_198586.3
p.E280K
c.838G>A
12 papers
NM_198586.3
p.L87P
c.260T>C
11 papers
NM_198586.3
p.P129H
c.386C>A
10 papers
NM_198586.3
p.P111L
c.332C>T
9 papers
NM_198586.3
p.F33S
c.98T>C
9 papers
NM_198586.3
p.E67*
c.199G>T
9 papers
NM_198586.3
p.E91K
c.271G>A
8 papers
NM_198586.3
p.C46Y
c.137G>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."