Varaico: Literature-Extracted Genetic Variants

Gene:NHLRC1
Variant:p.D308A

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
7 papers
NM_198586.3
p.D308A
c.923A>C
Surrounding Variants
3 papers
NM_198586.3
p.D308V
c.923A>T
1 paper
NM_198586.3
p.F310C
c.929T>G
2 papers
NM_198586.3
p.Q306L
c.917A>T
2 papers
NM_198586.3
p.G305D
c.914G>A
1 paper
NM_198586.3
p.S313delFs
c.937delT
1 paper
NM_198586.3
p.L314fs
c.940_941fs
7 papers
NM_198586.3
p.Q302P
c.905A>C
2 papers
NM_198586.3
p.L314_Y315insFs
c.940_943dup4
1 paper
NM_198586.3
p.F316I
c.946T>A
2 papers
NM_198586.3
p.S300delFs
c.898delT
2 papers
NM_198586.3
p.S300fs
c.898_899fs
2 papers
NM_198586.3
p.S299fs
c.895_896fs
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."