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.S110S

c.330G>A

Surrounding Variants

2 papers

NM_020546.3

p.R107H

c.320G>A

1 paper

NM_020546.3

p.M120V

c.358A>G

1 paper

NM_020546.3

p.V96F

c.286G>T

1 paper

NM_020546.3

p.L95P

c.284T>C

2 papers

NM_020546.3

p.F89L

c.267C>A

1 paper

NM_020546.3

p.F89L

c.267C>G

1 paper

NM_020546.3

p.S132P

c.394T>C

1 paper

NM_020546.3

p.F89L

c.265T>C

1 paper

NM_020546.3

p.T81R

c.242C>G

1 paper

NM_020546.3

p.I80T

c.239T>C

1 paper

NM_020546.3

p.A77A

c.231G>A

1 paper

NM_020546.3

p.D74N

c.220G>A