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.T281N

c.842C>A

Surrounding Variants

1 paper

NM_019065.3

p.N282S

c.845A>G

1 paper

NM_019065.3

p.D279D

c.837T>C

1 paper

NM_019065.3

p.D277N

c.829G>A

1 paper

NM_019065.3

p.L275L

c.823C>T

1 paper

NM_019065.3

p.D270N

c.808G>A

2 papers

NM_019065.3

p.R289W

c.865C>T

1 paper

NM_019065.3

p.E291K

c.871G>A

1 paper

NM_019065.3

p.A293A

c.879C>T

1 paper

NM_019065.3

p.E297K

c.889G>A

1 paper

NM_019065.3

p.R307H

c.920G>A

1 paper

NM_019065.3

p.Q308_Y309insCG

c.922_926ins6

1 paper

NM_019065.3

p.Q308H

c.924G>C