Varaico: Literature-Extracted Genetic Variants

ADCY4

101 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). Mous...

Pfam Domains

AC_Naa 4–249UCSCAdenylyl cyclase N-terminal extracellular and transmembrane region

Guanylate_cycaa 264–442UCSCAdenylate and Guanylate cyclase catalytic domain

Adcy_cons_domaa 479–584UCSCAdenylate cyclase, conserved domain

Guanylate_cycaa 864–1064UCSCAdenylate and Guanylate cyclase catalytic domain

Gene Aliases

HGNC Name

adenylate cyclase 4

HGNC Alias Symbol

AC4

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001198568.2

p.P696fs

c.2086_2087fs

Surrounding Variants

1 paper

NM_001198568.2

p.C691fs

c.2071_2072fs

1 paper

NM_001198568.2

p.D690fs

c.2068_2069fs

1 paper

NM_001198568.2

p.P696_L705delFs

c.2087_2115del29

1 paper

NM_001198568.2

p.P686L

c.2057C>T

1 paper

NM_001198568.2

p.S717N

c.2150G>A

1 paper

NM_001198568.2

p.P719_Y720Splc

c.2158-81G>A

1 paper

NM_001198568.2

p.T726T

c.2178G>A

1 paper

NM_001198568.2

p.G728D

c.2183G>A

1 paper

NM_001198568.2

p.H760Q

c.2280C>G

1 paper

NM_001198568.2

p.H760Q

c.2280C>A

1 paper

NM_001198568.2

p.S766L

c.2297C>T

1 paper

NM_001198568.2

p.I770I

c.2310C>T