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.P738_Y739Splc

c.2214+1G>T

Surrounding Variants

1 paper

NM_020546.3

p.R730H

c.2189G>A

1 paper

NM_020546.3

p.R730C

c.2188C>T

1 paper

NM_020546.3

p.A727S

c.2179G>T

1 paper

NM_020546.3

p.S720L

c.2159C>T

1 paper

NM_020546.3

p.T715K

c.2144C>A

1 paper

NM_020546.3

p.T714A

c.2140A>G

1 paper

NM_020546.3

p.N713K

c.2139C>A

1 paper

NM_020546.3

p.N713K

c.2139C>G

1 paper

NM_020546.3

p.S704L

c.2111C>T

1 paper

NM_020546.3

p.F699fs

c.2095_2096fs

1 paper

NM_020546.3

p.C744*

c.2232C>A

1 paper

NM_020546.3

p.L746Q

c.2237T>A