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

2 papers

NM_015270.5

p.T163A

c.487A>G

Surrounding Variants

1 paper

NM_015270.5

p.V158M

c.472G>A

1 paper

NM_015270.5

p.H170L

c.509A>T

1 paper

NM_015270.5

p.T153T

c.459G>A

1 paper

NM_015270.5

p.A172G

c.515C>G

1 paper

NM_015270.5

p.S150I

c.449G>T

1 paper

NM_015270.5

p.Q149H

c.447G>T

1 paper

NM_015270.5

p.Q149H

c.447G>C

1 paper

NM_015270.5

p.R142L

c.425G>T

1 paper

NM_015270.5

p.A185P

c.553G>C

6 papers

NM_015270.5

p.R138H

c.413G>A

1 paper

NM_015270.5

p.S128L

c.383C>T

2 papers

NM_015270.5

p.R200Q

c.599G>A