Varaico: Literature-Extracted Genetic Variants

Gene:NEURL2
Variant:p.R28W

NEURL2

18 papers

RefSeq Summary

This gene encodes a protein that is involved in the regulation of myofibril organization. This protein is likely the adaptor component of the E3 ubiquitin ligase complex in striated muscle, and it reg...

Pfam Domains

Neuralizedaa 26–243UCSCNeuralized
SOCS_boxaa 247–283UCSCSOCS box

Gene Aliases

HGNC Name

neuralized E3 ubiquitin protein ligase 2

HGNC Previous Symbol

C20orf163

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_080749.4
p.R28W
c.82C>T
Surrounding Variants
1 paper
NM_080749.4
p.P22S
c.64C>T
1 paper
NM_080749.4
p.G15*
c.43G>T
1 paper
NM_080749.4
p.C54S
c.160T>A
1 paper
NM_080749.4
p.C54S
c.161G>C
1 paper
NM_080749.4
p.P62fs
c.184_185fs
1 paper
NM_080749.4
p.P62_L67delFs
c.184_199del16
1 paper
NM_080749.4
p.T86P
c.256A>C
2 papers
NM_080749.4
p.S92T
c.275G>C
1 paper
NM_080749.4
p.S136insFs
c.406dupA
1 paper
NM_080749.4
p.V160V
c.480G>A
1 paper
NM_080749.4
p.R186S
c.556C>A
1 paper
NM_080749.4
p.T184_D199del16
c.550_596del48
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