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

3 papers

NM_020546.3

p.R538H

c.1613G>A

Surrounding Variants

1 paper

NM_020546.3

p.G531C

c.1591G>T

1 paper

NM_020546.3

p.M530T

c.1589T>C

1 paper

NM_020546.3

p.T526_D527Splc

c.1578+2T>C

1 paper

NM_020546.3

p.T526M

c.1577C>T

1 paper

NM_020546.3

p.A508S

c.1522G>T

1 paper

NM_020546.3

p.K505T

c.1514A>C

1 paper

NM_020546.3

p.R496Q

c.1487G>A

1 paper

NM_020546.3

p.R493C

c.1477C>T

1 paper

NM_020546.3

p.A490S

c.1468G>T

1 paper

NM_020546.3

p.D484H

c.1450G>C

1 paper

NM_020546.3

p.Q474R

c.1421A>G

1 paper

NM_020546.3

p.Q474K

c.1420C>A