Varaico: Literature-Extracted Genetic Variants

Gene:NHLRC1
Variant:p.V221_V231delFs

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.V221_V231delFs
c.661_692del32
Surrounding Variants
1 paper
NM_198586.3
p.V231insFs
c.691dupG
6 papers
NM_198586.3
p.D233A
c.698A>C
1 paper
NM_198586.3
p.I229T
c.686T>C
1 paper
NM_198586.3
p.D233del1
c.697_698delATC
1 paper
NM_198586.3
p.N227K
c.681T>G
3 papers
NM_198586.3
p.Q226*
c.676C>T
1 paper
NM_198586.3
p.Q226K
c.676C>A
1 paper
NM_198586.3
p.T224T
c.672C>T
1 paper
NM_198586.3
p.H240R
c.719A>G
1 paper
NM_198586.3
p.H240P
c.719A>C
6 papers
NM_198586.3
p.L241F
c.721C>T
1 paper
NM_198586.3
p.L241_L242insCTT
c.721_725ins9
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."