Varaico: Literature-Extracted Genetic Variants

Gene:NOVA1
Variant:p.E199G

NOVA1

64 papers

RefSeq Summary

This gene encodes a neuron-specific RNA-binding protein, a member of the Nova family of paraneoplastic disease antigens, that is recognized and inhibited by paraneoplastic antibodies. These antibodies...

Pfam Domains

KH_1aa 51–118UCSCKH domain
KH_1aa 173–239UCSCKH domain
KH_1aa 423–490UCSCKH domain

Gene Aliases

HGNC Name

NOVA alternative splicing regulator 1

HGNC Alias Symbol

NOVA-1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002515.3
p.E199G
c.596A>G
Surrounding Variants
1 paper
NM_002515.3
p.M198I
c.594G>T
1 paper
NM_002515.3
p.M198I
c.594G>C
1 paper
NM_002515.3
p.M198I
c.594G>A
1 paper
NM_002515.3
p.Q200R
c.599A>G
2 papers
NM_002515.3
p.V197I
c.589G>A
1 paper
NM_002515.3
p.G202R
c.604G>C
1 paper
NM_002515.3
p.G202R
c.604G>A
1 paper
NM_002515.3
p.G202V
c.605G>T
1 paper
NM_002515.3
p.G202E
c.605G>A
1 paper
NM_002515.3
p.A196V
c.587C>T
1 paper
NM_002515.3
p.A196T
c.586G>A
1 paper
NM_002515.3
p.A203S
c.607G>T
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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."