Varaico: Literature-Extracted Genetic Variants

Gene:NHLRC1
Variant:p.A2_A3insFs

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.A2_A3insFs
c.6_7insT
Surrounding Variants
2 papers
NM_198586.3
p.M1insFs
c.1dupA
1 paper
NM_198586.3
p.M1T
c.2T>C
1 paper
NM_198586.3
p.E4V
c.11A>T
1 paper
NM_198586.3
p.M1V
c.1A>G
1 paper
NM_198586.3
p.E4insFs
c.12dupA
1 paper
NM_198586.3
p.A11T
c.31G>A
2 papers
NM_198586.3
p.A11E
c.32C>A
1 paper
NM_198586.3
p.A11delFs
c.33delC
1 paper
NM_198586.3
p.H13Q
c.39T>G
1 paper
NM_198586.3
p.H13Q
c.39T>A
1 paper
NM_198586.3
p.R17C
c.49C>T
1 paper
NM_198586.3
p.E18Q
c.52G>C
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