Varaico: Literature-Extracted Genetic Variants

Gene:NHLRC1
Variant:p.L261L

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.L261L
c.781C>T
Surrounding Variants
3 papers
NM_198586.3
p.L261P
c.782T>C
2 papers
NM_198586.3
p.P264R
c.791C>G
8 papers
NM_198586.3
p.P264H
c.791C>A
5 papers
NM_198586.3
p.R265*
c.793C>T
1 paper
NM_198586.3
p.R256S
c.768G>T
1 paper
NM_198586.3
p.G266E
c.797G>A
1 paper
NM_198586.3
p.E255G
c.764A>G
1 paper
NM_198586.3
p.V267M
c.799G>A
1 paper
NM_198586.3
p.V267insFs
c.800_801insA
1 paper
NM_198586.3
p.V267insFs
c.800dupT
1 paper
NM_198586.3
p.R253Fs
c.759delinsCATGCAFs
4 papers
NM_198586.3
p.R253K
c.758G>A
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