Varaico: Literature-Extracted Genetic Variants

Gene:NHLRC1
Variant:p.G157V

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.G157V
c.470G>T
Surrounding Variants
7 papers
NM_198586.3
p.S156_G157delFs
c.468_469delCT
2 papers
NM_198586.3
p.S156delFs
c.468delT
1 paper
NM_198586.3
p.G158R
c.472G>C
1 paper
NM_198586.3
p.G158R
c.472G>A
6 papers
NM_198586.3
p.G158fs
c.472_473fs
8 papers
NM_198586.3
p.G158fs
c.472_473fs
1 paper
NM_198586.3
p.G159R
c.475G>C
1 paper
NM_198586.3
p.G159R
c.475G>A
1 paper
NM_198586.3
p.G158delFs
c.474delT
1 paper
NM_198586.3
p.F154insFs
c.462dupT
3 papers
NM_198586.3
p.C160R
c.478T>C
1 paper
NM_198586.3
p.C160C
c.480C>T
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