Varaico: Literature-Extracted Genetic Variants

Gene:NHLRC1
Variant:p.C54delins

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.C54delins
c.161_162delinsAT
Surrounding Variants
4 papers
NM_198586.3
p.C54Y
c.161G>A
1 paper
NM_198586.3
p.V55G
c.164T>G
1 paper
NM_198586.3
p.C54fs
c.160_161fs
1 paper
NM_198586.3
p.A56S
c.166G>T
1 paper
NM_198586.3
p.A56T
c.166G>A
1 paper
NM_198586.3
p.A53T
c.157G>A
1 paper
NM_198586.3
p.A57T
c.169G>A
1 paper
NM_198586.3
p.A59T
c.175G>A
2 papers
NM_198586.3
p.V49A
c.146T>C
1 paper
NM_198586.3
p.H60Y
c.178C>T
8 papers
NM_198586.3
p.C46Y
c.137G>A
1 paper
NM_198586.3
p.G34_S45delFs
c.102_133del32
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