Varaico: Literature-Extracted Genetic Variants

RICTOR

501 papers

RefSeq Summary

RICTOR and MTOR (FRAP1; MIM 601231) are components of a protein complex that integrates nutrient- and growth factor-derived signals to regulate cell growth (Sarbassov et al., 2004 [PubMed 15268862]).[...

Pfam Domains

RICTOR_Naa 57–439UCSCRapamycin-insensitive companion of mTOR, N-term

RICTOR_Maa 637–740UCSCRapamycin-insensitive companion of mTOR, middle domain

RasGEF_N_2aa 746–853UCSCRapamycin-insensitive companion of mTOR RasGEF_N domain

Gene Aliases

HGNC Name

RPTOR independent companion of MTOR complex 2

HGNC Alias Symbols

MGC39830; AVO3; PIA; KIAA1999

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_152756.5

p.V744I

c.2230G>A

Surrounding Variants

1 paper

NM_152756.5

p.H735N

c.2203C>A

1 paper

NM_152756.5

p.T757S

c.2269A>T

1 paper

NM_152756.5

p.T757I

c.2270C>T

1 paper

NM_152756.5

p.T757S

c.2270C>G

1 paper

NM_152756.5

p.Q758fs

c.2272_2273fs

1 paper

NM_152756.5

p.R729I

c.2186G>T

1 paper

NM_152756.5

p.A727V

c.2180C>T

1 paper

NM_152756.5

p.D761Y

c.2281G>T

1 paper

NM_152756.5

p.D726_A727Splc

c.2179-35T>G

1 paper

NM_152756.5

p.D775N

c.2323G>A

1 paper

NM_152756.5

p.D775insFs

c.2324_2325ins8

1 paper

NM_152756.5

p.E779K

c.2335G>A