Varaico: Literature-Extracted Genetic Variants

Gene:NHLRC1
Variant:p.T382_A383delins

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.T382_A383delins
c.1144_1147delinsC
Surrounding Variants
1 paper
NM_198586.3
p.A383T
c.1147G>A
1 paper
NM_198586.3
p.T382P
c.1144A>C
1 paper
NM_198586.3
p.D381G
c.1142A>G
1 paper
NM_198586.3
p.H385Y
c.1153C>T
3 papers
NM_198586.3
p.L380P
c.1139T>C
1 paper
NM_198586.3
p.L377_L378delFs
c.1129_1133del5
3 papers
NM_198586.3
p.L378P
c.1133T>C
1 paper
NM_198586.3
p.K388fs
c.1162_1163fs
2 papers
NM_198586.3
p.K388delFs
c.1163_1164delTT
1 paper
NM_198586.3
p.V389D
c.1166T>A
1 paper
NM_198586.3
p.V389insFs
c.1166dupT
1 paper
NM_198586.3
p.V389_Y390delFs
c.1167_1168delAG
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