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

3 papers

NM_015270.5

p.I547T

c.1640T>C

Surrounding Variants

1 paper

NM_015270.5

p.A540V

c.1619C>T

1 paper

NM_015270.5

p.R559R

c.1677G>A

1 paper

NM_015270.5

p.R534H

c.1601G>A

1 paper

NM_015270.5

p.N525Y

c.1573A>T

1 paper

NM_015270.5

p.I514V

c.1540A>G

2 papers

NM_015270.5

p.G512Splc

c.1535+1G>A

1 paper

NM_015270.5

p.A511_G512delFs

c.1532_1535del4

1 paper

NM_015270.5

p.A511fs

c.1531_1532fs

1 paper

NM_015270.5

p.A502V

c.1505C>T

1 paper

NM_015270.5

p.N497K

c.1491T>G

1 paper

NM_015270.5

p.N497K

c.1491T>A

1 paper

NM_015270.5

p.D587V

c.1760A>T