Varaico: Literature-Extracted Genetic Variants

Gene:NHLRC1
Variant:p.A193delFs

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.A193delFs
c.577_578delGC
Surrounding Variants
3 papers
NM_198586.3
p.G194C
c.580G>T
1 paper
NM_198586.3
p.D192Fs
c.574_576delinsTFs
1 paper
NM_198586.3
p.D195fs
c.583_584fs
4 papers
NM_198586.3
p.D195N
c.583G>A
1 paper
NM_198586.3
p.D192N
c.574G>A
1 paper
NM_198586.3
p.D192fs
c.574_575fs
3 papers
NM_198586.3
p.D195delFs
c.583delC
2 papers
NM_198586.3
p.R196L
c.587G>T
1 paper
NM_198586.3
p.R196H
c.587G>A
1 paper
NM_198586.3
p.V190G
c.569T>G
1 paper
NM_198586.3
p.I198L
c.592A>C
5 papers
NM_198586.3
p.I198N
c.593T>A
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