Varaico: Literature-Extracted Genetic Variants

Gene:NHLRC1
Variant:p.R252P

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.R252P
c.755G>C
Surrounding Variants
1 paper
NM_198586.3
p.R252R
c.756G>A
4 papers
NM_198586.3
p.R253K
c.758G>A
1 paper
NM_198586.3
p.L251fs
c.751_752fs
1 paper
NM_198586.3
p.R253Fs
c.759delinsCATGCAFs
1 paper
NM_198586.3
p.V250insFs
c.749_750ins5
1 paper
NM_198586.3
p.E255G
c.764A>G
2 papers
NM_198586.3
p.G249W
c.745G>T
1 paper
NM_198586.3
p.R256S
c.768G>T
1 paper
NM_198586.3
p.D243_F246del4
c.727_737del12
4 papers
NM_198586.3
p.D245N
c.733G>A
2 papers
NM_198586.3
p.V244delFs
c.730delC
1 paper
NM_198586.3
p.V244fs
c.730_731fs
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