Varaico: Literature-Extracted Genetic Variants

Gene:CALN1
Variant:p.D36E

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
Selected Variant
1 paper
NM_031468.4
p.D36E
c.108C>G
Surrounding Variants
1 paper
NM_031468.4
p.D36fs
c.106_107fs
1 paper
NM_031468.4
p.D36E
c.108C>A
1 paper
NM_031468.4
p.D36insFs
c.106_107insCC
1 paper
NM_031468.4
p.D36N
c.106G>A
1 paper
NM_031468.4
p.A34T
c.100G>A
1 paper
NM_031468.4
p.P29L
c.86C>T
1 paper
NM_031468.4
p.G26A
c.77G>C
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.K17M
c.50A>T
1 paper
NM_031468.4
p.P12P
c.36C>A
1 paper
NM_031468.4
p.E5*
c.13G>T
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