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

2 papers

NM_001098633.4

p.E18V

c.53A>T

Surrounding Variants

1 paper

NM_001098633.4

p.E18E

c.54G>A

1 paper

NM_001098633.4

p.A16A

c.48C>T

1 paper

NM_001098633.4

p.R21L

c.62G>T

1 paper

NM_001098633.4

p.A22_R23insFs

c.66_67insG

1 paper

NM_001098633.4

p.E27A

c.80A>C

1 paper

NM_001098633.4

p.L28_V29insFs

c.84_85insT

1 paper

NM_001098633.4

p.E7D

c.21G>T

1 paper

NM_001098633.4

p.E7D

c.21G>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.S3S

c.9G>C

1 paper

NM_001098633.4

p.A33T

c.97G>A