Varaico: Literature-Extracted Genetic Variants

Gene:NHLRC1
Variant:p.F33S

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
9 papers
NM_198586.3
p.F33S
c.98T>C
Surrounding Variants
1 paper
NM_198586.3
p.F33C
c.98T>G
1 paper
NM_198586.3
p.F33V
c.97T>G
1 paper
NM_198586.3
p.H35Y
c.103C>T
1 paper
NM_198586.3
p.E31V
c.92A>T
1 paper
NM_198586.3
p.H35delFs
c.104_105delGT
1 paper
NM_198586.3
p.V28E
c.83T>A
1 paper
NM_198586.3
p.V28M
c.82G>A
1 paper
NM_198586.3
p.K27insFs
c.80dupA
1 paper
NM_198586.3
p.K27E
c.79A>G
1 paper
NM_198586.3
p.R40C
c.118C>T
5 papers
NM_198586.3
p.C26*
c.78C>A
33 papers
NM_198586.3
p.C26S
c.77G>C
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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."