Varaico: Literature-Extracted Genetic Variants

PRKAG3

107 papers

RefSeq Summary

The protein encoded by this gene is a regulatory subunit of the AMP-activated protein kinase (AMPK). AMPK is a heterotrimer consisting of an alpha catalytic subunit, and non-catalytic beta and gamma s...

Pfam Domains

CBSaa 273–333UCSCCBS domain

CBSaa 350–407UCSCCBS domain

CBSaa 424–479UCSCCBS domain

Gene Aliases

HGNC Name

protein kinase AMP-activated non-catalytic subunit gamma 3

HGNC Previous Name

protein kinase, AMP-activated, gamma 3 non-catalytic subunit

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_017431.4

p.A482V

c.1445C>T

Surrounding Variants

4 papers

NM_017431.4

p.D485N

c.1453G>A

1 paper

NM_017431.4

p.G488R

c.1462G>C

1 paper

NM_017431.4

p.G488R

c.1462G>A

1 paper

NM_017431.4

p.A476A

c.1428A>G

1 paper

NM_017431.4

p.R454G

c.1360A>G

1 paper

NM_017431.4

p.H453R

c.1358A>G

1 paper

NM_017431.4

p.R446M

c.1337G>T

1 paper

NM_017431.4

p.E442K

c.1324G>A

1 paper

NM_017431.4

p.S416N

c.1247G>A

1 paper

NM_017431.4

p.V401E

c.1202T>A

2 papers

NM_017431.4

p.V392V

c.1176C>T

1 paper

NM_017431.4

p.E388K

c.1162G>A