Varaico: Literature-Extracted Genetic Variants

Gene:NUCB2
Variant:p.L401_Q402del2

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
5 papers
NM_005013.4
p.L401_Q402del2
c.1201_1205del6
Surrounding Variants
1 paper
NM_005013.4
p.K400fs
c.1198_1199fs
4 papers
NM_005013.4
p.L401_Q402del1
c.1203_1205delACA
1 paper
NM_005013.4
p.M396R
c.1187T>G
1 paper
NM_005013.4
p.G412R
c.1234G>A
1 paper
NM_005013.4
p.G412R
c.1234G>C
1 paper
NM_005013.4
p.I420T
c.1259T>C
1 paper
NM_005013.4
p.R377H
c.1130G>A
1 paper
NM_005013.4
p.Q339E
c.1015C>G
15 papers
NM_005013.4
p.Q338E
c.1012C>G
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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."