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

2 papers

NM_152756.5

p.R855W

c.2563C>T

Surrounding Variants

2 papers

NM_152756.5

p.R855Q

c.2564G>A

1 paper

NM_152756.5

p.A850V

c.2549C>T

1 paper

NM_152756.5

p.N848S

c.2543A>G

1 paper

NM_152756.5

p.L847P

c.2540T>C

1 paper

NM_152756.5

p.R865C

c.2593C>T

1 paper

NM_152756.5

p.R865H

c.2594G>A

1 paper

NM_152756.5

p.L842F

c.2526G>T

1 paper

NM_152756.5

p.L842F

c.2526G>C

1 paper

NM_152756.5

p.R870K

c.2609G>A

1 paper

NM_152756.5

p.R870Splc

c.2609+3G>T

15 papers

NM_152756.5

p.S837F

c.2510C>T

1 paper

NM_152756.5

p.R870Splc

c.2609+7A>G