Varaico: Literature-Extracted Genetic Variants

Gene:NHLRC1
Variant:p.R40C

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.R40C
c.118C>T
Surrounding Variants
1 paper
NM_198586.3
p.R40H
c.119G>A
2 papers
NM_198586.3
p.P41S
c.121C>T
2 papers
NM_198586.3
p.P41L
c.122C>T
1 paper
NM_198586.3
p.F33_P41del0
c.98_121del24
1 paper
NM_198586.3
p.P41P
c.123G>A
1 paper
NM_198586.3
p.P41del1
c.121_122delCGG
1 paper
NM_198586.3
p.H35delFs
c.104_105delGT
1 paper
NM_198586.3
p.H35Y
c.103C>T
1 paper
NM_198586.3
p.G34_S45delFs
c.102_133del32
8 papers
NM_198586.3
p.C46Y
c.137G>A
1 paper
NM_198586.3
p.F33C
c.98T>G
9 papers
NM_198586.3
p.F33S
c.98T>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."