Varaico: Literature-Extracted Genetic Variants

ADCY7

128 papers

RefSeq Summary

This gene encodes a membrane-bound adenylate cyclase that catalyses the formation of cyclic AMP from ATP and is inhibitable by calcium. The product of this gene is a member of the adenylyl cyclase cla...

Pfam Domains

AC_Naa 15–256UCSCAdenylyl cyclase N-terminal extracellular and transmembrane region

Guanylate_cycaa 270–453UCSCAdenylate and Guanylate cyclase catalytic domain

Adcy_cons_domaa 485–593UCSCAdenylate cyclase, conserved domain

Guanylate_cycaa 870–1069UCSCAdenylate and Guanylate cyclase catalytic domain

Gene Aliases

HGNC Name

adenylate cyclase 7

HGNC Alias Symbols

KIAA0037; AC7

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_001114.5

p.A475T

c.1423G>A

Surrounding Variants

1 paper

NM_001114.5

p.A474T

c.1420G>A

5 papers

NM_001114.5

p.A480V

c.1439C>T

1 paper

NM_001114.5

p.S490P

c.1468T>C

1 paper

NM_001114.5

p.A493E

c.1478C>A

1 paper

NM_001114.5

p.A493A

c.1479G>A

1 paper

NM_001114.5

p.R495Q

c.1484G>A

1 paper

NM_001114.5

p.L500delFs

c.1500delC

1 paper

NM_001114.5

p.N501fs

c.1501_1502fs

1 paper

NM_001114.5

p.R503H

c.1508G>A

1 paper

NM_001114.5

p.P514S

c.1540C>T

1 paper

NM_001114.5

p.R517W

c.1549C>T

1 paper

NM_001114.5

p.R539L

c.1616G>T