Varaico: Literature-Extracted Genetic Variants

NECAB2

54 papers

RefSeq Summary

The protein encoded by this gene is a neuronal calcium-binding protein that binds to and modulates the function of at least two receptors, adenosine A(2A) receptor and metabotropic glutamate receptor ...

Pfam Domains

EF-hand_7aa 62–124UCSCEF-hand domain pair

ABMaa 286–360UCSCAntibiotic biosynthesis monooxygenase

Gene Aliases

HGNC Name

N-terminal EF-hand calcium binding protein 2

HGNC Previous Symbol

EFCBP2

Papers

RefSeq ID

Protein change

DNA change

1–12 of 58 variants

2 papers

NM_019065.3

p.R289W

c.865C>T

2 papers

NM_019065.3

p.L353V

c.1057C>G

1 paper

NM_019065.3

p.M1insFs

c.3dupG

1 paper

NM_019065.3

p.A5P

c.13G>C

1 paper

NM_019065.3

p.A11V

c.32C>T

1 paper

NM_019065.3

p.L31L

c.91C>T

1 paper

NM_019065.3

p.V34M

c.100G>A

1 paper

NM_019065.3

p.P47fs

c.139_140fs

1 paper

NM_019065.3

p.R70H

c.209G>A

1 paper

NM_019065.3

p.A72V

c.215C>T

1 paper

NM_019065.3

p.D76Splc

c.226+1G>A

1 paper

NM_019065.3

p.L80M

c.238C>A