Varaico: Literature-Extracted Genetic Variants

Gene:NHLRC1
Variant:p.V180A

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.V180A
c.539T>C
Surrounding Variants
1 paper
NM_198586.3
p.D179delFs
c.536_537delAT
1 paper
NM_198586.3
p.V178delFs
c.532_533delAC
1 paper
NM_198586.3
p.N184delins
c.550_551delinsCG
1 paper
NM_198586.3
p.R175insFs
c.524_525insT
1 paper
NM_198586.3
p.I174delFs
c.521delA
7 papers
NM_198586.3
p.H187P
c.560A>C
1 paper
NM_198586.3
p.D173Y
c.517G>T
1 paper
NM_198586.3
p.Q172insFs
c.515dupA
1 paper
NM_198586.3
p.V190G
c.569T>G
1 paper
NM_198586.3
p.D169N
c.505G>A
1 paper
NM_198586.3
p.D192N
c.574G>A
1 paper
NM_198586.3
p.D192fs
c.574_575fs
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