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.P57A

c.169C>G

Surrounding Variants

1 paper

NM_015270.5

p.P57S

c.169C>T

1 paper

NM_015270.5

p.P57T

c.169C>A

1 paper

NM_015270.5

p.P57L

c.170C>T

1 paper

NM_015270.5

p.P55A

c.163C>G

1 paper

NM_015270.5

p.P60A

c.178C>G

1 paper

NM_015270.5

p.P61S

c.181C>T

1 paper

NM_015270.5

p.R62W

c.184C>T

1 paper

NM_015270.5

p.R62R

c.186G>T

1 paper

NM_015270.5

p.A69T

c.205G>A

2 papers

NM_015270.5

p.R72Q

c.215G>A

1 paper

NM_015270.5

p.G77R

c.229G>C

1 paper

NM_015270.5

p.G77S

c.229G>A