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.S12delFs

c.34delT

Surrounding Variants

1 paper

NM_001198568.2

p.S6delFs

c.18delG

1 paper

NM_001198568.2

p.S6R

c.18C>G

1 paper

NM_001198568.2

p.S6R

c.18C>A

1 paper

NM_001198568.2

p.S6R

c.16A>C

2 papers

NM_001198568.2

p.L34del1

c.100_101delCAG

1 paper

NM_001198568.2

p.G35E

c.104G>A

1 paper

NM_001198568.2

p.W49*

c.146G>A

2 papers

NM_001198568.2

p.A50V

c.149C>T

1 paper

NM_001198568.2

p.T56S

c.166A>T

1 paper

NM_001198568.2

p.T56S

c.167C>G

1 paper

NM_001198568.2

p.S57L

c.170C>T

1 paper

NM_001198568.2

p.R87P

c.260G>C