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.R51G

c.151C>G

Surrounding Variants

2 papers

NM_001098633.4

p.A53T

c.157G>A

1 paper

NM_001098633.4

p.A47P

c.139G>C

1 paper

NM_001098633.4

p.A57G

c.170C>G

1 paper

NM_001098633.4

p.P39S

c.115C>T

1 paper

NM_001098633.4

p.P39A

c.115C>G

1 paper

NM_001098633.4

p.I65S

c.194T>G

1 paper

NM_001098633.4

p.A66_L67insG

c.196_200ins3

1 paper

NM_001098633.4

p.A33T

c.97G>A

1 paper

NM_001098633.4

p.H69P

c.206A>C

1 paper

NM_001098633.4

p.A72V

c.215C>T

1 paper

NM_001098633.4

p.L28_V29insFs

c.84_85insT

1 paper

NM_001098633.4

p.T73delFs

c.218delG