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.S718P

c.2152T>C

Surrounding Variants

1 paper

NM_152756.5

p.L717F

c.2149C>T

1 paper

NM_152756.5

p.I720L

c.2158A>C

1 paper

NM_152756.5

p.I720M

c.2160T>G

1 paper

NM_152756.5

p.T722A

c.2164A>G

4 papers

NM_152756.5

p.A713G

c.2138C>G

1 paper

NM_152756.5

p.A723S

c.2167G>T

1 paper

NM_152756.5

p.L712F

c.2136G>T

1 paper

NM_152756.5

p.L712F

c.2136G>C

1 paper

NM_152756.5

p.A724T

c.2170G>A

1 paper

NM_152756.5

p.G711E

c.2132G>A

1 paper

NM_152756.5

p.Y707C

c.2120A>G

1 paper

NM_152756.5

p.D706fs

c.2116_2117fs