Varaico: Literature-Extracted Genetic Variants

Gene:NCS1
Variant:p.R102Q

NCS1

64 papers

RefSeq Summary

This gene is a member of the neuronal calcium sensor gene family, which encode calcium-binding proteins expressed predominantly in neurons. The protein encoded by this gene regulates G protein-coupled...

Pfam Domains

EF-hand_1aa 65–92UCSCEF hand domain
EF-hand_1aa 65–92UCSCEF hand domain
EF-hand_7aa 98–174UCSCEF-hand domain pair

Gene Aliases

HGNC Name

neuronal calcium sensor 1

HGNC Previous Symbol

FREQ

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
9 papers
NM_014286.4
p.R102Q
c.305G>A
Surrounding Variants
1 paper
NM_014286.4
p.A88V
c.263C>T
1 paper
NM_014286.4
p.F85Y
c.254T>A
1 paper
NM_014286.4
p.E84Q
c.250G>C
1 paper
NM_014286.4
p.G78R
c.232G>A
1 paper
NM_014286.4
p.G78R
c.232G>C
1 paper
NM_014286.4
p.F69insFs
c.205_206ins7
1 paper
NM_014286.4
p.F69fs
c.205_206fs
1 paper
NM_014286.4
p.T66A
c.196A>G
1 paper
NM_014286.4
p.F64Y
c.191T>A
1 paper
NM_014286.4
p.T62T
c.186C>A
1 paper
NM_014286.4
p.Q49H
c.147G>T
1 paper
NM_014286.4
p.L43L
c.129G>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."