Varaico: Literature-Extracted Genetic Variants

Gene:NHLRC1
Variant:p.Q226K

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.Q226K
c.676C>A
Surrounding Variants
3 papers
NM_198586.3
p.Q226*
c.676C>T
1 paper
NM_198586.3
p.T224T
c.672C>T
1 paper
NM_198586.3
p.N227K
c.681T>G
1 paper
NM_198586.3
p.I229T
c.686T>C
3 papers
NM_198586.3
p.E222*
c.664G>T
4 papers
NM_198586.3
p.V221fs
c.661_662fs
1 paper
NM_198586.3
p.G220insFs
c.660dupT
3 papers
NM_198586.3
p.V221fs
c.661_662fs
1 paper
NM_198586.3
p.P218_G220del0
c.652_660del9
1 paper
NM_198586.3
p.V231insFs
c.691dupG
1 paper
NM_198586.3
p.V221_V231delFs
c.661_692del32
4 papers
NM_198586.3
p.W219*
c.657G>A
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