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

9 papers

NM_152756.5

p.R907C

c.2719C>T

Surrounding Variants

2 papers

NM_152756.5

p.R907H

c.2720G>A

3 papers

NM_152756.5

p.R910C

c.2728C>T

4 papers

NM_152756.5

p.R910H

c.2729G>A

1 paper

NM_152756.5

p.P912T

c.2734C>A

1 paper

NM_152756.5

p.P912Q

c.2735C>A

1 paper

NM_152756.5

p.W917R

c.2749T>C

1 paper

NM_152756.5

p.W917R

c.2749T>A

1 paper

NM_152756.5

p.W917S

c.2750G>C

1 paper

NM_152756.5

p.E918D

c.2754A>T

1 paper

NM_152756.5

p.E918D

c.2754A>C

1 paper

NM_152756.5

p.L930_G931Splc

c.2790+116A>T

1 paper

NM_152756.5

p.G934S

c.2800G>A