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.S373R

c.1119C>A

Surrounding Variants

1 paper

NM_001198568.2

p.S373R

c.1119C>G

1 paper

NM_001198568.2

p.S373R

c.1117A>C

1 paper

NM_001198568.2

p.I379V

c.1135A>G

2 papers

NM_001198568.2

p.I379I

c.1137C>T

2 papers

NM_001198568.2

p.D387N

c.1159G>A

1 paper

NM_001198568.2

p.H391fs

c.1171_1172fs

1 paper

NM_001198568.2

p.R356Q

c.1067G>A

1 paper

NM_001198568.2

p.H391delFs

c.1172_1173delAT

1 paper

NM_001198568.2

p.G403C

c.1207G>T

1 paper

NM_001198568.2

p.A351D

c.1052C>A

1 paper

NM_001198568.2

p.R350Q

c.1049G>A

1 paper

NM_001198568.2

p.D347Y

c.1039G>T