Varaico: Literature-Extracted Genetic Variants

Gene:NUCB1
Variant:p.N281K

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.N281K
c.843T>G
Surrounding Variants
1 paper
NM_006184.6
p.D284N
c.850G>A
1 paper
NM_006184.6
p.D284E
c.852C>A
1 paper
NM_006184.6
p.D284E
c.852C>G
1 paper
NM_006184.6
p.R287R
c.861G>C
1 paper
NM_006184.6
p.E316A
c.947A>C
1 paper
NM_006184.6
p.S320A
c.958T>G
1 paper
NM_006184.6
p.D328A
c.983A>C
1 paper
NM_006184.6
p.E264A
c.791A>C
1 paper
NM_006184.6
p.I254V
c.760A>G
1 paper
NM_006184.6
p.L347L
c.1039C>T
1 paper
NM_006184.6
p.E358D
c.1074G>C
1 paper
NM_006184.6
p.E358D
c.1074G>T
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