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.V163A

c.488T>C

Surrounding Variants

1 paper

NM_020546.3

p.S162R

c.486C>A

1 paper

NM_020546.3

p.S162R

c.486C>G

1 paper

NM_020546.3

p.S162R

c.484A>C

1 paper

NM_020546.3

p.T165I

c.494C>T

2 papers

NM_020546.3

p.A158T

c.472G>A

1 paper

NM_020546.3

p.D157E

c.471C>A

1 paper

NM_020546.3

p.D157E

c.471C>G

1 paper

NM_020546.3

p.D157D

c.471C>T

1 paper

NM_020546.3

p.R156*

c.466C>T

1 paper

NM_020546.3

p.C176F

c.527G>T

4 papers

NM_020546.3

p.V147L

c.439G>C

4 papers

NM_020546.3

p.V147L

c.439G>T