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

1–12 of 80 variants

4 papers

NM_001098633.4

p.T246A

c.736A>G

2 papers

NM_001098633.4

p.E18V

c.53A>T

2 papers

NM_001098633.4

p.A53T

c.157G>A

2 papers

NM_001098633.4

p.I122T

c.365T>C

2 papers

NM_001098633.4

p.S183A

c.547T>G

2 papers

NM_001098633.4

p.P185A

c.553C>G

1 paper

NM_001098633.4

p.A2insFs

c.4_5insT

1 paper

NM_001098633.4

p.A2E

c.5C>A

1 paper

NM_001098633.4

p.S3S

c.9G>C

1 paper

NM_001098633.4

p.G4G

c.12G>C

1 paper

NM_001098633.4

p.G4G

c.12G>A

1 paper

NM_001098633.4

p.E7D

c.21G>T