Varaico: Literature-Extracted Genetic Variants

Gene:NUCB2
Variant:p.K325insFs

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.K325insFs
c.975dupA
Surrounding Variants
2 papers
NM_005013.4
p.E326fs
c.976_977fs
1 paper
NM_005013.4
p.E316delFs
c.947delA
1 paper
NM_005013.4
p.E334D
c.1002G>C
1 paper
NM_005013.4
p.E334D
c.1002G>T
1 paper
NM_005013.4
p.L274F
c.822G>C
1 paper
NM_005013.4
p.L274F
c.822G>T
1 paper
NM_005013.4
p.D240Y
c.718G>T
1 paper
NM_005013.4
p.Q228_L229insFs
c.684_685insA
1 paper
NM_005013.4
p.P223_G224Splc
c.669+1G>A
1 paper
NM_005013.4
p.K219Q
c.655A>C
1 paper
NM_005013.4
p.K219E
c.655A>G
1 paper
NM_005013.4
p.E209K
c.625G>A
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