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.N1197Y

c.3589A>T

Surrounding Variants

1 paper

NM_152756.5

p.N1197K

c.3591T>G

1 paper

NM_152756.5

p.N1197K

c.3591T>A

1 paper

NM_152756.5

p.T1198A

c.3592A>G

1 paper

NM_152756.5

p.T1198I

c.3593C>T

2 papers

NM_152756.5

p.T1198K

c.3593C>A

1 paper

NM_152756.5

p.S1199N

c.3596G>A

1 paper

NM_152756.5

p.H1194R

c.3581A>G

1 paper

NM_152756.5

p.H1194Y

c.3580C>T

1 paper

NM_152756.5

p.R1200Q

c.3599G>A

1 paper

NM_152756.5

p.N1193D

c.3577A>G

1 paper

NM_152756.5

p.E1192A

c.3575A>C

1 paper

NM_152756.5

p.R1202M

c.3605G>T