Varaico: Literature-Extracted Genetic Variants

ADCY6

154 papers

RefSeq Summary

This gene encodes a member of the adenylyl cyclase family of proteins, which are required for the synthesis of cyclic AMP. All members of this family have an intracellular N-terminus, a tandem repeat ...

Pfam Domains

AC_Naa 11–368UCSCAdenylyl cyclase N-terminal extracellular and transmembrane region

Guanylate_cycaa 370–554UCSCAdenylate and Guanylate cyclase catalytic domain

Adcy_cons_domaa 580–669UCSCAdenylate cyclase, conserved domain

Guanylate_cycaa 970–1164UCSCAdenylate and Guanylate cyclase catalytic domain

Gene Aliases

HGNC Name

adenylate cyclase 6

HGNC Alias Symbol

AC6

Papers

RefSeq ID

Protein change

DNA change

1–12 of 156 variants

7 papers

NM_015270.5

p.A674S

c.2020G>T

6 papers

NM_015270.5

p.R138H

c.413G>A

4 papers

NM_015270.5

p.Y992C

c.2975A>G

3 papers

NM_015270.5

p.R120C

c.358C>T

3 papers

NM_015270.5

p.I547T

c.1640T>C

3 papers

NM_015270.5

p.E1003K

c.3007G>A

3 papers

NM_015270.5

p.R1116C

c.3346C>T

2 papers

NM_015270.5

p.R72Q

c.215G>A

2 papers

NM_015270.5

p.A107V

c.320C>T

2 papers

NM_015270.5

p.T163A

c.487A>G

2 papers

NM_015270.5

p.R200Q

c.599G>A

2 papers

NM_015270.5

p.Q205L

c.614A>T