Varaico: Literature-Extracted Genetic Variants

RPTOR

545 papers

RefSeq Summary

This gene encodes a component of a signaling pathway that regulates cell growth in response to nutrient and insulin levels. The encoded protein forms a stoichiometric complex with the mTOR kinase, and...

Pfam Domains

Raptor_Naa 55–206UCSCRaptor N-terminal CASPase like domain

HEATaa 558–588UCSCHEAT repeat

HEATaa 602–630UCSCHEAT repeat

WD40aa 1157–1194UCSCWD domain, G-beta repeat

Gene Aliases

HGNC Name

regulatory associated protein of MTOR complex 1

HGNC Alias Symbols

KOG1; Mip1; KIAA1303; raptor

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

5 papers

NM_020761.3

p.A765T

c.2293G>A

Surrounding Variants

1 paper

NM_020761.3

p.S766T

c.2297G>C

1 paper

NM_020761.3

p.S763C

c.2287A>T

1 paper

NM_020761.3

p.T761A

c.2281A>G

1 paper

NM_020761.3

p.E773K

c.2317G>A

1 paper

NM_020761.3

p.S755F

c.2264C>T

2 papers

NM_020761.3

p.F754F

c.2262C>T

1 paper

NM_020761.3

p.E776*

c.2326G>T

1 paper

NM_020761.3

p.A753V

c.2258C>T

2 papers

NM_020761.3

p.A751V

c.2252C>T

1 paper

NM_020761.3

p.A751P

c.2251G>C

1 paper

NM_020761.3

p.G749S

c.2245G>A

1 paper

NM_020761.3

p.I784L

c.2350A>C