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.T115_G117delFs

c.344_351del8

Surrounding Variants

1 paper

NM_001098633.4

p.G117R

c.349G>C

1 paper

NM_001098633.4

p.G117R

c.349G>A

2 papers

NM_001098633.4

p.I122T

c.365T>C

1 paper

NM_001098633.4

p.G126R

c.376G>C

1 paper

NM_001098633.4

p.E105A

c.314A>C

1 paper

NM_001098633.4

p.R95P

c.284G>C

1 paper

NM_001098633.4

p.P93delFs

c.278delG

1 paper

NM_001098633.4

p.P91A

c.271C>G

1 paper

NM_001098633.4

p.P84_Q85insT

c.250_254ins3

1 paper

NM_001098633.4

p.A83delFs

c.247delC

1 paper

NM_001098633.4

p.A79A

c.237G>A

1 paper

NM_001098633.4

p.P77T

c.229C>A