Varaico: Literature-Extracted Genetic Variants

Gene:NUCB2
Variant:p.D49H

NUCB2

101 papers

RefSeq Summary

This gene encodes a protein with a suggested role in calcium level maintenance, eating regulation in the hypothalamus, and release of tumor necrosis factor from vascular endothelial cells. This protei...

Pfam Domains

NUCB1_Naa 20–163UCSCNUCB1-like, N-terminal domain
EF-hand_7aa 244–323UCSCEF-hand domain pair

Gene Aliases

HGNC Name

nucleobindin 2

HGNC Alias Symbol

NEFA

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005013.4
p.D49H
c.145G>C
Surrounding Variants
1 paper
NM_005013.4
p.Y54F
c.161A>T
1 paper
NM_005013.4
p.E56Q
c.166G>C
1 paper
NM_005013.4
p.V64M
c.190G>A
1 paper
NM_005013.4
p.R72T
c.215G>C
1 paper
NM_005013.4
p.D79V
c.236A>T
1 paper
NM_005013.4
p.E81Q
c.241G>C
1 paper
NM_005013.4
p.T20A
c.58A>G
1 paper
NM_005013.4
p.Y10_C11insFs
c.30_31insA
1 paper
NM_005013.4
p.L7Q
c.20T>A
1 paper
NM_005013.4
p.R2S
c.6G>C
1 paper
NM_005013.4
p.G112G
c.336A>G
1 paper
NM_005013.4
p.K121Q
c.361A>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."