Varaico: Literature-Extracted Genetic Variants

Gene:NHLRC1
Variant:p.G220insFs

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.G220insFs
c.660dupT
Surrounding Variants
3 papers
NM_198586.3
p.V221fs
c.661_662fs
1 paper
NM_198586.3
p.P218_G220del0
c.652_660del9
4 papers
NM_198586.3
p.V221fs
c.661_662fs
3 papers
NM_198586.3
p.E222*
c.664G>T
4 papers
NM_198586.3
p.W219*
c.657G>A
1 paper
NM_198586.3
p.W219S
c.656G>C
6 papers
NM_198586.3
p.W219*
c.656G>A
8 papers
NM_198586.3
p.W219R
c.655T>C
8 papers
NM_198586.3
p.W219R
c.655T>A
1 paper
NM_198586.3
p.L217_P218delFs
c.649_652del4
5 papers
NM_198586.3
p.P218S
c.652C>T
1 paper
NM_198586.3
p.T224T
c.672C>T
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