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

1–12 of 591 variants

15 papers

NM_152756.5

p.S837F

c.2510C>T

9 papers

NM_152756.5

p.R907C

c.2719C>T

5 papers

NM_152756.5

p.E545K

c.1633G>A

5 papers

NM_152756.5

p.Y565C

c.1694A>G

5 papers

NM_152756.5

p.S1101L

c.3302C>T

5 papers

NM_152756.5

p.T1135A

c.3403A>G

5 papers

NM_152756.5

p.D1182G

c.3545A>G

4 papers

NM_152756.5

p.T210I

c.629C>T

4 papers

NM_152756.5

p.A713G

c.2138C>G

4 papers

NM_152756.5

p.N783S

c.2348A>G

4 papers

NM_152756.5

p.R910H

c.2729G>A

4 papers

NM_152756.5

p.D1074G

c.3221A>G