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.R1116C

c.3346C>T

Surrounding Variants

1 paper

NM_015270.5

p.T1120M

c.3359C>T

1 paper

NM_015270.5

p.V1122G

c.3365T>G

1 paper

NM_015270.5

p.V1096I

c.3286G>A

1 paper

NM_015270.5

p.A1137V

c.3410C>T

1 paper

NM_015270.5

p.C1145Y

c.3434G>A

1 paper

NM_015270.5

p.L1162L

c.3486C>G

1 paper

NM_015270.5

p.G1164V

c.3491G>T

1 paper

NM_015270.5

p.I1085T

c.3254T>C

2 papers

NM_015270.5

p.F1081S

c.3242T>C

1 paper

NM_015270.5

p.R1065Q

c.3194G>A

1 paper

NM_015270.5

p.S1054C

c.3161C>G

1 paper

NM_015270.5

p.N1044K

c.3132C>G