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.N1044K

c.3132C>G

Surrounding Variants

1 paper

NM_015270.5

p.N1044K

c.3132C>A

1 paper

NM_015270.5

p.S1054C

c.3161C>G

1 paper

NM_015270.5

p.T1032M

c.3095C>T

1 paper

NM_015270.5

p.K1031R

c.3092A>G

1 paper

NM_015270.5

p.R1025W

c.3073C>T

1 paper

NM_015270.5

p.R1065Q

c.3194G>A

1 paper

NM_015270.5

p.E1021Q

c.3061G>C

1 paper

NM_015270.5

p.E1021K

c.3061G>A

1 paper

NM_015270.5

p.S1020N

c.3059G>A

2 papers

NM_015270.5

p.F1081S

c.3242T>C

1 paper

NM_015270.5

p.I1085T

c.3254T>C

1 paper

NM_015270.5

p.E1017_I1018Splc

c.3051+71G>A