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.V850delFs

c.2549delT

Surrounding Variants

2 papers

NM_020761.3

p.V850I

c.2548G>A

1 paper

NM_020761.3

p.R849H

c.2546G>A

1 paper

NM_020761.3

p.L851M

c.2551C>A

1 paper

NM_020761.3

p.L851fs

c.2551_2552fs

1 paper

NM_020761.3

p.Q848H

c.2544G>C

1 paper

NM_020761.3

p.Q848H

c.2544G>T

1 paper

NM_020761.3

p.Q848fs

c.2542_2543fs

1 paper

NM_020761.3

p.Q848delFs

c.2542delC

1 paper

NM_020761.3

p.T853P

c.2557A>C

1 paper

NM_020761.3

p.S854P

c.2560T>C

1 paper

NM_020761.3

p.A845T

c.2533G>A

1 paper

NM_020761.3

p.S855P

c.2563T>C