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.T230I

c.689C>T

Surrounding Variants

2 papers

NM_152756.5

p.A226V

c.677C>T

1 paper

NM_152756.5

p.A226T

c.676G>A

1 paper

NM_152756.5

p.E225Q

c.673G>C

1 paper

NM_152756.5

p.N236_H237Fs

c.707_709delinsCCFs

2 papers

NM_152756.5

p.R222Q

c.665G>A

1 paper

NM_152756.5

p.R241Q

c.722G>A

1 paper

NM_152756.5

p.R245*

c.733C>T

1 paper

NM_152756.5

p.K213_N214insT

c.637_641ins3

1 paper

NM_152756.5

p.L212F

c.636G>T

1 paper

NM_152756.5

p.L212F

c.636G>C

1 paper

NM_152756.5

p.E249D

c.747A>T

1 paper

NM_152756.5

p.I211V

c.631A>G