Varaico: Literature-Extracted Genetic Variants

Gene:NHLRC1
Variant:p.H60Y

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.H60Y
c.178C>T
Surrounding Variants
1 paper
NM_198586.3
p.A59T
c.175G>A
1 paper
NM_198586.3
p.A57T
c.169G>A
1 paper
NM_198586.3
p.T63insFs
c.188dupC
1 paper
NM_198586.3
p.A56S
c.166G>T
1 paper
NM_198586.3
p.A56T
c.166G>A
1 paper
NM_198586.3
p.V55G
c.164T>G
2 papers
NM_198586.3
p.C54delins
c.161_162delinsAT
4 papers
NM_198586.3
p.C54Y
c.161G>A
1 paper
NM_198586.3
p.C54fs
c.160_161fs
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.A53T
c.157G>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."