Varaico: Literature-Extracted Genetic Variants

Gene:NHLRC1
Variant:p.P69A

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
34 papers
NM_198586.3
p.P69A
c.205C>G
Surrounding Variants
3 papers
NM_198586.3
p.P69S
c.205C>T
8 papers
NM_198586.3
p.C68Y
c.203G>A
2 papers
NM_198586.3
p.P69fs
c.205_206fs
1 paper
NM_198586.3
p.C68delFs
c.204delG
9 papers
NM_198586.3
p.E67*
c.199G>T
7 papers
NM_198586.3
p.E67Q
c.199G>C
1 paper
NM_198586.3
p.R73Q
c.218G>A
1 paper
NM_198586.3
p.T63insFs
c.188dupC
1 paper
NM_198586.3
p.C75insFs
c.223_224insC
1 paper
NM_198586.3
p.C75W
c.225C>G
1 paper
NM_198586.3
p.H60Y
c.178C>T
1 paper
NM_198586.3
p.D79N
c.235G>A
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."