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

1–12 of 108 variants

4 papers

NM_001198568.2

p.E453V

c.1358A>T

3 papers

NM_001198568.2

p.R659*

c.1975C>T

2 papers

NM_001198568.2

p.L34del1

c.100_101delCAG

2 papers

NM_001198568.2

p.A50V

c.149C>T

2 papers

NM_001198568.2

p.R343H

c.1028G>A

2 papers

NM_001198568.2

p.I379I

c.1137C>T

2 papers

NM_001198568.2

p.D387N

c.1159G>A

2 papers

NM_001198568.2

p.R525H

c.1574G>A

1 paper

NM_001198568.2

p.S6R

c.16A>C

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.S6delFs

c.18delG