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

Selected Variant

1 paper

NM_019065.3

p.S136Y

c.407C>A

Surrounding Variants

1 paper

NM_019065.3

p.D121Splc

c.362-5C>T

1 paper

NM_019065.3

p.T105M

c.314C>T

1 paper

NM_019065.3

p.F103insFs

c.308_309insCG

1 paper

NM_019065.3

p.V93I

c.277G>A

1 paper

NM_019065.3

p.S81C

c.242C>G

1 paper

NM_019065.3

p.L80M

c.238C>A

1 paper

NM_019065.3

p.D76Splc

c.226+1G>A

1 paper

NM_019065.3

p.A72V

c.215C>T

1 paper

NM_019065.3

p.R70H

c.209G>A

1 paper

NM_019065.3

p.K171R

c.512A>G

1 paper

NM_019065.3

p.E172A

c.515A>C