Varaico: Literature-Extracted Genetic Variants

Gene:NHLRC1
Variant:p.G331fs

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
3 papers
NM_198586.3
p.G331fs
c.991_992fs
Surrounding Variants
7 papers
NM_198586.3
p.G331delFs
c.992delC
4 papers
NM_198586.3
p.G331fs
c.991_992fs
1 paper
NM_198586.3
p.H329P
c.986A>C
1 paper
NM_198586.3
p.N332_V333del2
c.994_998del6
1 paper
NM_198586.3
p.D328Y
c.982G>T
1 paper
NM_198586.3
p.D328N
c.982G>A
1 paper
NM_198586.3
p.S339A
c.1015T>G
2 papers
NM_198586.3
p.S339fs
c.1015_1016fs
1 paper
NM_198586.3
p.A324S
c.970G>T
5 papers
NM_198586.3
p.S339fs
c.1015_1016fs
3 papers
NM_198586.3
p.T338_S339insFs
c.1014_1015ins4
1 paper
NM_198586.3
p.S323F
c.968C>T
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