Varaico: Literature-Extracted Genetic Variants

Gene:NUCB1

NUCB1

50 papers

RefSeq Summary

This gene encodes a member of a small calcium-binding EF-hand protein family. The encoded protein is thought to have a key role in Golgi calcium homeostasis and Ca(2+)-regulated signal transduction ev...

Pfam Domains

NUCB1_Naa 26–162UCSCNUCB1-like, N-terminal domain

Gene Aliases

HGNC Name

nucleobindin 1

HGNC Alias Symbols

NUC; Calnuc

Papers
RefSeq ID
Protein change
DNA change
1–12 of 44 variants
3 papers
NM_006184.6
p.R189C
c.565C>T
2 papers
NM_006184.6
p.A23T
c.67G>A
1 paper
NM_006184.6
p.L12P
c.35T>C
1 paper
NM_006184.6
p.V27A
c.80T>C
1 paper
NM_006184.6
p.P28A
c.82C>G
1 paper
NM_006184.6
p.E30A
c.89A>C
1 paper
NM_006184.6
p.G32A
c.95G>C
1 paper
NM_006184.6
p.P34A
c.100C>G
1 paper
NM_006184.6
p.P34S
c.100C>T
1 paper
NM_006184.6
p.R53L
c.158G>T
1 paper
NM_006184.6
p.D60N
c.178G>A
1 paper
NM_006184.6
p.E70A
c.209A>C
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