Varaico: Literature-Extracted Genetic Variants

ADCY2

182 papers

RefSeq Summary

This gene encodes a member of the family of adenylate cyclases, which are membrane-associated enzymes that catalyze the formation of the secondary messenger cyclic adenosine monophosphate (cAMP). This...

Pfam Domains

AC_Naa 28–266UCSCAdenylyl cyclase N-terminal extracellular and transmembrane region

Guanylate_cycaa 281–465UCSCAdenylate and Guanylate cyclase catalytic domain

Adcy_cons_domaa 495–600UCSCAdenylate cyclase, conserved domain

Guanylate_cycaa 878–1078UCSCAdenylate and Guanylate cyclase catalytic domain

Gene Aliases

HGNC Name

adenylate cyclase 2

HGNC Alias Symbols

HBAC2; KIAA1060; AC2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_020546.3

p.A948E

c.2843C>A

Surrounding Variants

1 paper

NM_020546.3

p.G950C

c.2848G>T

1 paper

NM_020546.3

p.P955L

c.2864C>T

1 paper

NM_020546.3

p.I941T

c.2822T>C

1 paper

NM_020546.3

p.Q957delFs

c.2871delG

1 paper

NM_020546.3

p.E958fs

c.2872_2873fs

1 paper

NM_020546.3

p.K937R

c.2810A>G

1 paper

NM_020546.3

p.P930S

c.2788C>T

1 paper

NM_020546.3

p.L926I

c.2776C>A

1 paper

NM_020546.3

p.A921G

c.2762C>G

1 paper

NM_020546.3

p.A921T

c.2761G>A

1 paper

NM_020546.3

p.K907N

c.2721G>C

1 paper

NM_020546.3

p.K907N

c.2721G>T