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

1–12 of 225 variants

6 papers

NM_020546.3

p.V888I

c.2662G>A

4 papers

NM_020546.3

p.V147L

c.439G>C

4 papers

NM_020546.3

p.V147L

c.439G>T

3 papers

NM_020546.3

p.R538H

c.1613G>A

3 papers

NM_020546.3

p.V784I

c.2350G>A

3 papers

NM_020546.3

p.C887C

c.2661C>T

2 papers

NM_020546.3

p.L70_E71Splc

c.211-3C>T

2 papers

NM_020546.3

p.F89L

c.267C>A

2 papers

NM_020546.3

p.R107H

c.320G>A

2 papers

NM_020546.3

p.A158T

c.472G>A

2 papers

NM_020546.3

p.D339H

c.1015G>C

2 papers

NM_020546.3

p.A438T

c.1312G>A