Varaico: Literature-Extracted Genetic Variants

Gene:NHLRC1
Variant:p.L369insFs

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.L369insFs
c.1105dupC
Surrounding Variants
1 paper
NM_198586.3
p.L369insFs
c.1106_1107insAC
3 papers
NM_198586.3
p.V367fs
c.1099_1100fs
3 papers
NM_198586.3
p.P366L
c.1097C>T
1 paper
NM_198586.3
p.S364*
c.1091C>A
1 paper
NM_198586.3
p.N375S
c.1124A>G
3 papers
NM_198586.3
p.L378P
c.1133T>C
1 paper
NM_198586.3
p.L377_L378delFs
c.1129_1133del5
1 paper
NM_198586.3
p.T360fs
c.1078_1079fs
1 paper
NM_198586.3
p.V359insFs
c.1076dupT
3 papers
NM_198586.3
p.V359fs
c.1075_1076fs
3 papers
NM_198586.3
p.L380P
c.1139T>C
1 paper
NM_198586.3
p.M358L
c.1072A>T
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