Varaico: Literature-Extracted Genetic Variants

Gene:NHLRC1
Variant:p.W271*

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.W271*
c.813G>A
Surrounding Variants
1 paper
NM_198586.3
p.W271*
c.812G>A
1 paper
NM_198586.3
p.L272F
c.814C>T
1 paper
NM_198586.3
p.G274W
c.820G>T
1 paper
NM_198586.3
p.V269M
c.805G>A
1 paper
NM_198586.3
p.V267insFs
c.800dupT
1 paper
NM_198586.3
p.V267insFs
c.800_801insA
2 papers
NM_198586.3
p.V269_A275del7
c.805_824del21
1 paper
NM_198586.3
p.V267M
c.799G>A
1 paper
NM_198586.3
p.G266E
c.797G>A
1 paper
NM_198586.3
p.A277fs
c.829_830fs
3 papers
NM_198586.3
p.A277insFs
c.829dupG
1 paper
NM_198586.3
p.I276_A277insFs
c.826_829dup4
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