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

Selected Variant

1 paper

NM_015270.5

p.V851V

c.2553G>T

Surrounding Variants

1 paper

NM_015270.5

p.L847H

c.2540T>A

1 paper

NM_015270.5

p.D863E

c.2589C>G

1 paper

NM_015270.5

p.D863E

c.2589C>A

1 paper

NM_015270.5

p.G837R

c.2509G>C

1 paper

NM_015270.5

p.G837R

c.2509G>A

1 paper

NM_015270.5

p.G870D

c.2609G>A

1 paper

NM_015270.5

p.Y815H

c.2443T>C

1 paper

NM_015270.5

p.R775W

c.2323C>T

1 paper

NM_015270.5

p.R770Q

c.2309G>A

1 paper

NM_015270.5

p.M761_F762Splc

c.2283+1G>A

1 paper

NM_015270.5

p.I747N

c.2240T>A

1 paper

NM_015270.5

p.G746G

c.2238C>T