Varaico: Literature-Extracted Genetic Variants

Gene:NHLRC1
Variant:p.S318C

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.S318C
c.953C>G
Surrounding Variants
1 paper
NM_198586.3
p.S318F
c.953C>T
1 paper
NM_198586.3
p.S318insFs
c.953dupC
1 paper
NM_198586.3
p.F316I
c.946T>A
1 paper
NM_198586.3
p.I320delFs
c.959delA
2 papers
NM_198586.3
p.L314_Y315insFs
c.940_943dup4
1 paper
NM_198586.3
p.A322V
c.965C>T
1 paper
NM_198586.3
p.L314fs
c.940_941fs
1 paper
NM_198586.3
p.S313delFs
c.937delT
1 paper
NM_198586.3
p.S323F
c.968C>T
1 paper
NM_198586.3
p.A324S
c.970G>T
1 paper
NM_198586.3
p.F310C
c.929T>G
1 paper
NM_198586.3
p.D328Y
c.982G>T
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