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.T695A

c.2083A>G

Surrounding Variants

1 paper

NM_015270.5

p.H693N

c.2077C>A

1 paper

NM_015270.5

p.V712M

c.2134G>A

1 paper

NM_015270.5

p.V717A

c.2150T>C

1 paper

NM_015270.5

p.L677M

c.2029C>A

7 papers

NM_015270.5

p.A674S

c.2020G>T

1 paper

NM_015270.5

p.R730H

c.2189G>A

2 papers

NM_015270.5

p.R739W

c.2215C>T

1 paper

NM_015270.5

p.G746G

c.2238C>T

1 paper

NM_015270.5

p.I747N

c.2240T>A

1 paper

NM_015270.5

p.M761_F762Splc

c.2283+1G>A

1 paper

NM_015270.5

p.R647W

c.1939C>T

1 paper

NM_015270.5

p.R646L

c.1937G>T