Varaico: Literature-Extracted Genetic Variants

Gene:NCS1
Variant:p.F105L

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
1 paper
NM_014286.4
p.F105L
c.313T>C
Surrounding Variants
1 paper
NM_014286.4
p.F105L
c.315C>A
1 paper
NM_014286.4
p.F105L
c.315C>G
1 paper
NM_014286.4
p.W103Splc
c.308-22C>G
2 papers
NM_014286.4
p.E120Q
c.358G>C
1 paper
NM_014286.4
p.M121L
c.361A>T
1 paper
NM_014286.4
p.M121K
c.362T>A
1 paper
NM_014286.4
p.Y129D
c.385T>G
1 paper
NM_014286.4
p.M131V
c.391A>G
1 paper
NM_014286.4
p.M131K
c.392T>A
1 paper
NM_014286.4
p.G133E
c.398G>A
1 paper
NM_014286.4
p.E137E
c.411G>A
1 paper
NM_014286.4
p.P145S
c.433C>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."