Varaico: Literature-Extracted Genetic Variants

Gene:NHLRC1
Variant:p.V144G

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.V144G
c.431T>G
Surrounding Variants
1 paper
NM_198586.3
p.V144L
c.430G>C
37 papers
NM_198586.3
p.D146N
c.436G>A
3 papers
NM_198586.3
p.D146V
c.437A>T
1 paper
NM_198586.3
p.G147R
c.439G>C
1 paper
NM_198586.3
p.D146_G147delFs
c.438_441del4
1 paper
NM_198586.3
p.R140H
c.419G>A
1 paper
NM_198586.3
p.R140C
c.418C>T
1 paper
NM_198586.3
p.R149_R150insFs
c.447_448ins4
1 paper
NM_198586.3
p.V151F
c.451G>T
1 paper
NM_198586.3
p.V151A
c.452T>C
1 paper
NM_198586.3
p.P136delFs
c.407delG
1 paper
NM_198586.3
p.P136fs
c.406_407fs
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