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

4 papers

NM_152756.5

p.N783S

c.2348A>G

Surrounding Variants

1 paper

NM_152756.5

p.L784F

c.2350C>T

1 paper

NM_152756.5

p.Q789*

c.2365C>T

1 paper

NM_152756.5

p.Q789R

c.2366A>G

1 paper

NM_152756.5

p.P792Q

c.2375C>A

1 paper

NM_152756.5

p.S795F

c.2384C>T

1 paper

NM_152756.5

p.G798E

c.2393G>A

1 paper

NM_152756.5

p.G801V

c.2402G>T

1 paper

NM_152756.5

p.G801D

c.2402G>A

1 paper

NM_152756.5

p.L804fs

c.2410_2411fs

1 paper

NM_152756.5

p.K781_A782Splc

c.2343+7G>C

1 paper

NM_152756.5

p.K781N

c.2343G>T

1 paper

NM_152756.5

p.K781N

c.2343G>C