Varaico: Literature-Extracted Genetic Variants

Gene:NHLRC1
Variant:p.D245N

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
4 papers
NM_198586.3
p.D245N
c.733G>A
Surrounding Variants
2 papers
NM_198586.3
p.V244delFs
c.730delC
1 paper
NM_198586.3
p.V244fs
c.730_731fs
1 paper
NM_198586.3
p.L242delFs
c.725delA
1 paper
NM_198586.3
p.D243_F246del4
c.727_737del12
1 paper
NM_198586.3
p.L242P
c.725T>C
1 paper
NM_198586.3
p.L242fs
c.724_725fs
1 paper
NM_198586.3
p.L239_H240del2
c.715_719del6
2 papers
NM_198586.3
p.G249W
c.745G>T
6 papers
NM_198586.3
p.L241F
c.721C>T
1 paper
NM_198586.3
p.L241_L242insCTT
c.721_725ins9
1 paper
NM_198586.3
p.H240R
c.719A>G
1 paper
NM_198586.3
p.H240P
c.719A>C
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