Varaico: Literature-Extracted Genetic Variants

Gene:NHLRC1
Variant:p.H104H

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
2 papers
NM_198586.3
p.H104H
c.312T>C
Surrounding Variants
1 paper
NM_198586.3
p.H104_R105del2
c.310_314del6
3 papers
NM_198586.3
p.P108S
c.322C>T
1 paper
NM_198586.3
p.S109fs
c.325_326fs
1 paper
NM_198586.3
p.P108delFs
c.324delG
10 papers
NM_198586.3
p.P111L
c.332C>T
2 papers
NM_198586.3
p.L97R
c.290T>G
2 papers
NM_198586.3
p.P111insFs
c.333dupC
1 paper
NM_198586.3
p.G112R
c.334G>A
1 paper
NM_198586.3
p.P111delFs
c.331delG
1 paper
NM_198586.3
p.P111delFs
c.332_333delGG
1 paper
NM_198586.3
p.G112_A113insFs
c.336_337insA
1 paper
NM_198586.3
p.A96delFs
c.286delC
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