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.G112fs

c.334_335fs

Surrounding Variants

1 paper

NM_001198568.2

p.L100_A102del3

c.298_305del9

1 paper

NM_001198568.2

p.Q119_V120Splc

c.357+3G>A

1 paper

NM_001198568.2

p.A102V

c.305C>T

1 paper

NM_001198568.2

p.P91S

c.271C>T

1 paper

NM_001198568.2

p.R87P

c.260G>C

1 paper

NM_001198568.2

p.V126D

c.377T>A

1 paper

NM_001198568.2

p.T129M

c.386C>T

1 paper

NM_001198568.2

p.A130G

c.389C>G

1 paper

NM_001198568.2

p.S57L

c.170C>T

1 paper

NM_001198568.2

p.T56S

c.167C>G

1 paper

NM_001198568.2

p.T56S

c.166A>T

1 paper

NM_001198568.2

p.M133T

c.398T>C