Varaico: Literature-Extracted Genetic Variants

Gene:NUCB1
Variant:p.H131D

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
Selected Variant
1 paper
NM_006184.6
p.H131D
c.391C>G
Surrounding Variants
1 paper
NM_006184.6
p.K136Q
c.406A>C
1 paper
NM_006184.6
p.E150K
c.448G>A
1 paper
NM_006184.6
p.E150A
c.449A>C
1 paper
NM_006184.6
p.H185H
c.555C>T
3 papers
NM_006184.6
p.R189C
c.565C>T
1 paper
NM_006184.6
p.K205R
c.614A>G
1 paper
NM_006184.6
p.R211C
c.631C>T
1 paper
NM_006184.6
p.D236E
c.708T>A
1 paper
NM_006184.6
p.D236E
c.708T>G
1 paper
NM_006184.6
p.H94P
c.281A>C
1 paper
NM_006184.6
p.H94R
c.281A>G
1 paper
NM_006184.6
p.R87Q
c.260G>A
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