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.E2insFs

c.4dupG

Surrounding Variants

1 paper

NM_020761.3

p.E2_E15ins4

c.4_45dup42

1 paper

NM_020761.3

p.M1insFs

c.2dupT

1 paper

NM_020761.3

p.M1insFs

c.2_3dupTG

1 paper

NM_020761.3

p.M1_E2ins0

c.2_4dupTGG

1 paper

NM_020761.3

p.M1_E2del1

c.2_4delTGG

1 paper

NM_020761.3

p.E2_E4del3

c.4_11del9

1 paper

NM_020761.3

p.M1insFs

c.1dupA

1 paper

NM_020761.3

p.E2insFs

c.5dupA

1 paper

NM_020761.3

p.M1insFs

c.1_2dupAT

1 paper

NM_020761.3

p.M1_E2insFs

c.1_5dup5

1 paper

NM_020761.3

p.M1_E4insFs

c.2_12dup11

1 paper

NM_020761.3

p.M1delFs

c.1delA