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.R533G

c.1597A>G

Surrounding Variants

1 paper

NM_152756.5

p.I530L

c.1588A>C

1 paper

NM_152756.5

p.L528F

c.1582C>T

3 papers

NM_152756.5

p.E542K

c.1624G>A

1 paper

NM_152756.5

p.D523Y

c.1567G>T

1 paper

NM_152756.5

p.N543K

c.1629T>G

1 paper

NM_152756.5

p.N543K

c.1629T>A

1 paper

NM_152756.5

p.L544F

c.1630C>T

1 paper

NM_152756.5

p.E545Q

c.1633G>C

5 papers

NM_152756.5

p.E545K

c.1633G>A

1 paper

NM_152756.5

p.E545G

c.1634A>G

1 paper

NM_152756.5

p.N549K

c.1647T>G

1 paper

NM_152756.5

p.N549K

c.1647T>A