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.F322Y

c.965T>A

Surrounding Variants

1 paper

NM_020546.3

p.F322L

c.966T>A

1 paper

NM_020546.3

p.F322L

c.964T>C

1 paper

NM_020546.3

p.F322L

c.966T>G

1 paper

NM_020546.3

p.F319F

c.957T>C

1 paper

NM_020546.3

p.K327_E328Splc

c.981+5G>A

1 paper

NM_020546.3

p.L315V

c.943C>G

1 paper

NM_020546.3

p.V312F

c.934G>T

1 paper

NM_020546.3

p.P308P

c.924G>A

1 paper

NM_020546.3

p.A303E

c.908C>A

1 paper

NM_020546.3

p.A303V

c.908C>T

2 papers

NM_020546.3

p.D339H

c.1015G>C

1 paper

NM_020546.3

p.C340Y

c.1019G>A