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.A104T

c.310G>A

Surrounding Variants

3 papers

NM_020761.3

p.G103S

c.307G>A

1 paper

NM_020761.3

p.N105K

c.315T>A

1 paper

NM_020761.3

p.N105K

c.315T>G

1 paper

NM_020761.3

p.T101A

c.301A>G

1 paper

NM_020761.3

p.E100K

c.298G>A

1 paper

NM_020761.3

p.Q109E

c.325C>G

1 paper

NM_020761.3

p.Q109Q

c.327G>A

1 paper

NM_020761.3

p.K97Q

c.289A>C

1 paper

NM_020761.3

p.E111fs

c.331_332fs

1 paper

NM_020761.3

p.Q96P

c.287A>C

1 paper

NM_020761.3

p.E111D

c.333G>C

1 paper

NM_020761.3

p.E111D

c.333G>T