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.Y565C

c.1694A>G

Surrounding Variants

1 paper

NM_152756.5

p.D567H

c.1699G>C

1 paper

NM_152756.5

p.W557C

c.1671G>C

1 paper

NM_152756.5

p.W557R

c.1669T>C

1 paper

NM_152756.5

p.W557R

c.1669T>A

1 paper

NM_152756.5

p.K556fs

c.1666_1667fs

1 paper

NM_152756.5

p.I551T

c.1652T>C

1 paper

NM_152756.5

p.N549K

c.1647T>G

1 paper

NM_152756.5

p.N549K

c.1647T>A

1 paper

NM_152756.5

p.E545G

c.1634A>G

1 paper

NM_152756.5

p.E545Q

c.1633G>C

5 papers

NM_152756.5

p.E545K

c.1633G>A

1 paper

NM_152756.5

p.L544F

c.1630C>T