Varaico: Literature-Extracted Genetic Variants

Gene:NHLRC1
Variant:p.A96delFs

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.A96delFs
c.286delC
Surrounding Variants
2 papers
NM_198586.3
p.L97R
c.290T>G
1 paper
NM_198586.3
p.L93L
c.279G>C
2 papers
NM_198586.3
p.I90_L92delFs
c.269_275del7
2 papers
NM_198586.3
p.E91delFs
c.271delC
9 papers
NM_198586.3
p.E91K
c.271G>A
1 paper
NM_198586.3
p.I90V
c.268A>G
1 paper
NM_198586.3
p.H88R
c.263A>G
2 papers
NM_198586.3
p.H104H
c.312T>C
12 papers
NM_198586.3
p.L87P
c.260T>C
1 paper
NM_198586.3
p.H104_R105del2
c.310_314del6
1 paper
NM_198586.3
p.C83_L84insFs
c.247_250dup4
3 papers
NM_198586.3
p.P108S
c.322C>T
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