Varaico: Literature-Extracted Genetic Variants

Gene:NUCB2
Variant:p.A134delFs

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.A134delFs
c.401_402delCT
Surrounding Variants
1 paper
NM_005013.4
p.A134delFs
c.400delG
1 paper
NM_005013.4
p.L135V
c.403C>G
2 papers
NM_005013.4
p.L136V
c.406C>G
1 paper
NM_005013.4
p.M130T
c.389T>C
1 paper
NM_005013.4
p.G129_M130insFs
c.387_388insA
1 paper
NM_005013.4
p.I128T
c.383T>C
1 paper
NM_005013.4
p.L142L
c.424C>T
1 paper
NM_005013.4
p.I159M
c.477C>G
1 paper
NM_005013.4
p.A161T
c.481G>A
3 papers
NM_005013.4
p.A161V
c.482C>T
1 paper
NM_005013.4
p.H174N
c.520C>A
1 paper
NM_005013.4
p.K178*
c.532A>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."