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.E1123K

c.3367G>A

Surrounding Variants

1 paper

NM_152756.5

p.S1122F

c.3365C>T

1 paper

NM_152756.5

p.K1125E

c.3373A>G

1 paper

NM_152756.5

p.K1125Q

c.3373A>C

2 papers

NM_152756.5

p.S1127G

c.3379A>G

2 papers

NM_152756.5

p.R1130*

c.3388C>T

5 papers

NM_152756.5

p.T1135A

c.3403A>G

1 paper

NM_152756.5

p.R1110L

c.3329G>T

2 papers

NM_152756.5

p.R1110H

c.3329G>A

1 paper

NM_152756.5

p.R1110C

c.3328C>T

1 paper

NM_152756.5

p.H1109fs

c.3325_3326fs

1 paper

NM_152756.5

p.P1105S

c.3313C>T

1 paper

NM_152756.5

p.N1142D

c.3424A>G