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.Q234insFs

c.701dupA

Surrounding Variants

1 paper

NM_001098633.4

p.D238H

c.712G>C

1 paper

NM_001098633.4

p.E229_A230insFs

c.687_688insCC

1 paper

NM_001098633.4

p.R228P

c.683G>C

1 paper

NM_001098633.4

p.P242delFs

c.725delG

1 paper

NM_001098633.4

p.R243Q

c.728G>A

1 paper

NM_001098633.4

p.L225M

c.673C>A

4 papers

NM_001098633.4

p.T246A

c.736A>G

1 paper

NM_001098633.4

p.M222R

c.665T>G

1 paper

NM_001098633.4

p.A219G

c.656C>G

1 paper

NM_001098633.4

p.I218M

c.654C>G

1 paper

NM_001098633.4

p.D216A

c.647A>C

1 paper

NM_001098633.4

p.S212A

c.634T>G