Varaico: Literature-Extracted Genetic Variants

Gene:NHLRC1
Variant:p.S339fs

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
2 papers
NM_198586.3
p.S339fs
c.1015_1016fs
Surrounding Variants
1 paper
NM_198586.3
p.S339A
c.1015T>G
5 papers
NM_198586.3
p.S339fs
c.1015_1016fs
3 papers
NM_198586.3
p.T338_S339insFs
c.1014_1015ins4
2 papers
NM_198586.3
p.I343T
c.1028T>C
1 paper
NM_198586.3
p.N332_V333del2
c.994_998del6
1 paper
NM_198586.3
p.C345fs
c.1033_1034fs
3 papers
NM_198586.3
p.G331fs
c.991_992fs
7 papers
NM_198586.3
p.G331delFs
c.992delC
1 paper
NM_198586.3
p.C345_L346delFs
c.1033_1037del5
4 papers
NM_198586.3
p.G331fs
c.991_992fs
1 paper
NM_198586.3
p.K348fs
c.1042_1043fs
1 paper
NM_198586.3
p.H329P
c.986A>C
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