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

4 papers

NM_001198568.2

p.E453V

c.1358A>T

Surrounding Variants

1 paper

NM_001198568.2

p.S465Y

c.1394C>A

1 paper

NM_001198568.2

p.L470F

c.1408C>T

1 paper

NM_001198568.2

p.L470I

c.1408C>A

1 paper

NM_001198568.2

p.P508P

c.1524G>A

1 paper

NM_001198568.2

p.E441K

c.1321G>A

1 paper

NM_001198568.2

p.R437W

c.1309C>T

1 paper

NM_001198568.2

p.A416A

c.1248C>T

1 paper

NM_001198568.2

p.G403C

c.1207G>T

1 paper

NM_001198568.2

p.H391delFs

c.1172_1173delAT

1 paper

NM_001198568.2

p.H391fs

c.1171_1172fs

2 papers

NM_001198568.2

p.D387N

c.1159G>A

2 papers

NM_001198568.2

p.I379I

c.1137C>T