Varaico: Literature-Extracted Genetic Variants

AKT1S1

128 papers

RefSeq Summary

AKT1S1 is a proline-rich substrate of AKT (MIM 164730) that binds 14-3-3 protein (see YWHAH, MIM 113508) when phosphorylated (Kovacina et al., 2003 [PubMed 12524439]).[supplied by OMIM, Mar 2008].

Pfam Domains

PRAS_NTaa 6–73UCSCProline-rich AKT1 substrate 1, N-terminal domain

PRASaa 127–251UCSCProline-rich AKT1 substrate 1

Gene Aliases

HGNC Name

AKT1 substrate 1

HGNC Alias Symbols

PRAS40; MGC2865; Lobe

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001098633.4

p.T198A

c.592A>G

Surrounding Variants

1 paper

NM_001098633.4

p.R197S

c.591G>T

1 paper

NM_001098633.4

p.R197S

c.591G>C

1 paper

NM_001098633.4

p.A200T

c.598G>A

1 paper

NM_001098633.4

p.S202A

c.604T>G

1 paper

NM_001098633.4

p.S203A

c.607T>G

1 paper

NM_001098633.4

p.D204N

c.610G>A

1 paper

NM_001098633.4

p.V186G

c.557T>G

2 papers

NM_001098633.4

p.P185A

c.553C>G

2 papers

NM_001098633.4

p.S183A

c.547T>G

1 paper

NM_001098633.4

p.P171S

c.511C>T

1 paper

NM_001098633.4

p.P170H

c.509C>A

1 paper

NM_001098633.4

p.P170S

c.508C>T