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.T526N

c.1577C>A

Surrounding Variants

2 papers

NM_001198568.2

p.R525H

c.1574G>A

1 paper

NM_001198568.2

p.R528fs

c.1582_1583fs

1 paper

NM_001198568.2

p.K552Splc

c.1655+4C>G

1 paper

NM_001198568.2

p.S557S

c.1671G>C

1 paper

NM_001198568.2

p.P562L

c.1685C>T

1 paper

NM_001198568.2

p.R577*

c.1729C>T

1 paper

NM_001198568.2

p.T619fs

c.1855_1856fs

1 paper

NM_001198568.2

p.T619insFs

c.1855_1856insT

1 paper

NM_001198568.2

p.T619insFs

c.1855_1856ins4

3 papers

NM_001198568.2

p.R659*

c.1975C>T

1 paper

NM_001198568.2

p.A678T

c.2032G>A

1 paper

NM_001198568.2

p.P686L

c.2057C>T