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.E433A

c.1298A>C

Surrounding Variants

1 paper

NM_020546.3

p.H434Q

c.1302C>A

1 paper

NM_020546.3

p.H434Q

c.1302C>G

1 paper

NM_020546.3

p.N436Y

c.1306A>T

2 papers

NM_020546.3

p.A438T

c.1312G>A

1 paper

NM_020546.3

p.S428F

c.1283C>T

1 paper

NM_020546.3

p.D445H

c.1333G>C

2 papers

NM_020546.3

p.G446S

c.1336G>A

1 paper

NM_020546.3

p.D450N

c.1348G>A

1 paper

NM_020546.3

p.Q455*

c.1363C>T

1 paper

NM_020546.3

p.I464N

c.1391T>A

1 paper

NM_020546.3

p.V421I

c.1261G>A

1 paper

NM_020546.3

p.G389E

c.1166G>A