Varaico: Literature-Extracted Genetic Variants

Gene:NHLRC1
Variant:p.E350Q

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.E350Q
c.1048G>C
Surrounding Variants
1 paper
NM_198586.3
p.E350*
c.1048G>T
2 papers
NM_198586.3
p.E350fs
c.1048_1049fs
7 papers
NM_198586.3
p.E350fs
c.1048_1049fs
4 papers
NM_198586.3
p.E350delFs
c.1049_1050delCT
1 paper
NM_198586.3
p.P349_E350insC
c.1045_1049ins3
1 paper
NM_198586.3
p.K348fs
c.1042_1043fs
1 paper
NM_198586.3
p.C345_L346delFs
c.1033_1037del5
1 paper
NM_198586.3
p.C345fs
c.1033_1034fs
2 papers
NM_198586.3
p.I343T
c.1028T>C
1 paper
NM_198586.3
p.M358L
c.1072A>T
1 paper
NM_198586.3
p.M358L
c.1072A>C
1 paper
NM_198586.3
p.V359insFs
c.1076dupT
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