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

1 paper

NM_020761.3

p.N797T

c.2390A>C

Surrounding Variants

1 paper

NM_020761.3

p.S798P

c.2392T>C

1 paper

NM_020761.3

p.S798F

c.2393C>T

4 papers

NM_020761.3

p.S792A

c.2374T>G

1 paper

NM_020761.3

p.G801Splc

c.2401+8C>T

1 paper

NM_020761.3

p.R789H

c.2366G>A

2 papers

NM_020761.3

p.R788H

c.2363G>A

2 papers

NM_020761.3

p.R788C

c.2362C>T

1 paper

NM_020761.3

p.D785N

c.2353G>A

1 paper

NM_020761.3

p.I784L

c.2350A>C

1 paper

NM_020761.3

p.E776*

c.2326G>T

1 paper

NM_020761.3

p.E773K

c.2317G>A

1 paper

NM_020761.3

p.S766T

c.2297G>C