Varaico: Literature-Extracted Genetic Variants

Gene:NHLRC1
Variant:p.C75W

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.C75W
c.225C>G
Surrounding Variants
1 paper
NM_198586.3
p.C75insFs
c.223_224insC
1 paper
NM_198586.3
p.R73Q
c.218G>A
1 paper
NM_198586.3
p.D79N
c.235G>A
1 paper
NM_198586.3
p.S81ins1
c.241_242insCTT
1 paper
NM_198586.3
p.T80delFs
c.239_240delGG
2 papers
NM_198586.3
p.P69fs
c.205_206fs
1 paper
NM_198586.3
p.C68delFs
c.204delG
4 papers
NM_198586.3
p.D82H
c.244G>C
2 papers
NM_198586.3
p.D82fs
c.244_245fs
3 papers
NM_198586.3
p.P69S
c.205C>T
34 papers
NM_198586.3
p.P69A
c.205C>G
1 paper
NM_198586.3
p.D82fs
c.244_245fs
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