Varaico: Literature-Extracted Genetic Variants

Gene:NOVA1
Variant:p.L55F

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.L55F
c.163C>T
Surrounding Variants
1 paper
NM_002515.3
p.S58R
c.172A>C
1 paper
NM_002515.3
p.S58R
c.174T>G
1 paper
NM_002515.3
p.S58R
c.174T>A
1 paper
NM_002515.3
p.Y59F
c.176A>T
1 paper
NM_002515.3
p.A61G
c.182C>G
1 paper
NM_002515.3
p.D47D
c.141C>T
1 paper
NM_002515.3
p.I64_I65insT
c.190_194ins3
1 paper
NM_002515.3
p.G68*
c.202G>T
1 paper
NM_002515.3
p.G68V
c.203G>T
1 paper
NM_002515.3
p.G69R
c.205G>C
1 paper
NM_002515.3
p.G69R
c.205G>A
1 paper
NM_002515.3
p.G69E
c.206G>A
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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."