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

4 papers

NM_015270.5

p.Y992C

c.2975A>G

Surrounding Variants

1 paper

NM_015270.5

p.M981I

c.2943G>T

1 paper

NM_015270.5

p.M981I

c.2943G>C

3 papers

NM_015270.5

p.E1003K

c.3007G>A

1 paper

NM_015270.5

p.M981I

c.2943G>A

1 paper

NM_015270.5

p.E976Q

c.2926G>C

1 paper

NM_015270.5

p.A1013T

c.3037G>A

1 paper

NM_015270.5

p.D968N

c.2902G>A

2 papers

NM_015270.5

p.R966C

c.2896C>T

1 paper

NM_015270.5

p.R965H

c.2894G>A

1 paper

NM_015270.5

p.A958V

c.2873C>T

1 paper

NM_015270.5

p.R945G

c.2833C>G

1 paper

NM_015270.5

p.E1017_I1018Splc

c.3051+71G>A