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.D787Y

c.2359G>T

Surrounding Variants

3 papers

NM_020546.3

p.V784I

c.2350G>A

1 paper

NM_020546.3

p.V791D

c.2372T>A

1 paper

NM_020546.3

p.T775T

c.2325C>T

1 paper

NM_020546.3

p.E760K

c.2278G>A

2 papers

NM_020546.3

p.E760Q

c.2278G>C

1 paper

NM_020546.3

p.R756W

c.2266C>T

1 paper

NM_020546.3

p.S752S

c.2256C>T

1 paper

NM_020546.3

p.L746Q

c.2237T>A

1 paper

NM_020546.3

p.C744*

c.2232C>A

1 paper

NM_020546.3

p.P738_Y739Splc

c.2214+1G>T

1 paper

NM_020546.3

p.R730H

c.2189G>A

1 paper

NM_020546.3

p.R730C

c.2188C>T