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.Q1218P

c.3653A>C

Surrounding Variants

1 paper

NM_152756.5

p.S1217T

c.3650G>C

1 paper

NM_152756.5

p.R1216H

c.3647G>A

1 paper

NM_152756.5

p.R1216C

c.3646C>T

1 paper

NM_152756.5

p.R1216G

c.3646C>G

1 paper

NM_152756.5

p.K1214N

c.3642G>T

1 paper

NM_152756.5

p.K1214N

c.3642G>C

1 paper

NM_152756.5

p.T1209M

c.3626C>T

1 paper

NM_152756.5

p.G1228C

c.3682G>T

1 paper

NM_152756.5

p.I1229T

c.3686T>C

1 paper

NM_152756.5

p.L1203I

c.3607T>A

1 paper

NM_152756.5

p.R1202M

c.3605G>T

1 paper

NM_152756.5

p.P1236A

c.3706C>G