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

5 papers

NM_152756.5

p.S1101L

c.3302C>T

Surrounding Variants

1 paper

NM_152756.5

p.N1100S

c.3299A>G

1 paper

NM_152756.5

p.P1105S

c.3313C>T

1 paper

NM_152756.5

p.K1095N

c.3285G>T

1 paper

NM_152756.5

p.K1095N

c.3285G>C

1 paper

NM_152756.5

p.K1095fs

c.3283_3284fs

1 paper

NM_152756.5

p.V1094L

c.3280G>T

1 paper

NM_152756.5

p.V1094L

c.3280G>C

1 paper

NM_152756.5

p.H1109fs

c.3325_3326fs

1 paper

NM_152756.5

p.R1110C

c.3328C>T

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.S1091N

c.3272G>A