Varaico: Literature-Extracted Genetic Variants

Gene:CALN1

CALN1

36 papers

RefSeq Summary

This gene encodes a protein with high similarity to the calcium-binding proteins of the calmodulin family. The encoded protein contains two EF-hand domains and potential calcium-binding sites. Alterna...

Pfam Domains

EF-hand_7aa 80–143UCSCEF-hand domain pair

Gene Aliases

HGNC Name

calneuron 1

HGNC Alias Symbol

CABP8

Papers
RefSeq ID
Protein change
DNA change
1–12 of 52 variants
2 papers
NM_031468.4
p.R88W
c.262C>T
2 papers
NM_031468.4
p.G259S
c.775G>A
1 paper
NM_031468.4
p.R2W
c.4C>T
1 paper
NM_031468.4
p.E5*
c.13G>T
1 paper
NM_031468.4
p.P12P
c.36C>A
1 paper
NM_031468.4
p.K17M
c.50A>T
1 paper
NM_031468.4
p.G20R
c.58G>C
1 paper
NM_031468.4
p.G20R
c.58G>A
1 paper
NM_031468.4
p.G26A
c.77G>C
1 paper
NM_031468.4
p.P29L
c.86C>T
1 paper
NM_031468.4
p.A34T
c.100G>A
1 paper
NM_031468.4
p.D36insFs
c.106_107insCC
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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."