Varaico: Literature-Extracted Genetic Variants

Gene:CALN1
Variant:p.R108C

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.R108C
c.322C>T
Surrounding Variants
1 paper
NM_031468.4
p.A106_M107insCC
c.316_320ins6
1 paper
NM_031468.4
p.L103L
c.309G>T
1 paper
NM_031468.4
p.V117M
c.349G>A
1 paper
NM_031468.4
p.E118E
c.354G>A
1 paper
NM_031468.4
p.G96S
c.286G>A
1 paper
NM_031468.4
p.R125H
c.374G>A
1 paper
NM_031468.4
p.R125R
c.375C>A
2 papers
NM_031468.4
p.R88W
c.262C>T
1 paper
NM_031468.4
p.G130R
c.388G>A
1 paper
NM_031468.4
p.R84*
c.250C>T
1 paper
NM_031468.4
p.I83I
c.249C>A
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