Varaico: Literature-Extracted Genetic Variants

RPTOR

545 papers

RefSeq Summary

This gene encodes a component of a signaling pathway that regulates cell growth in response to nutrient and insulin levels. The encoded protein forms a stoichiometric complex with the mTOR kinase, and...

Pfam Domains

Raptor_Naa 55–206UCSCRaptor N-terminal CASPase like domain

HEATaa 558–588UCSCHEAT repeat

HEATaa 602–630UCSCHEAT repeat

WD40aa 1157–1194UCSCWD domain, G-beta repeat

Gene Aliases

HGNC Name

regulatory associated protein of MTOR complex 1

HGNC Alias Symbols

KOG1; Mip1; KIAA1303; raptor

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_020761.3

p.S3insFs

c.9dupC

Surrounding Variants

1 paper

NM_020761.3

p.S3Y

c.8C>A

1 paper

NM_020761.3

p.E4K

c.10G>A

1 paper

NM_020761.3

p.E2insFs

c.5dupA

1 paper

NM_020761.3

p.E4insFs

c.12dupA

1 paper

NM_020761.3

p.M5_Q7del3

c.13_20del9

1 paper

NM_020761.3

p.E2_S3del1

c.5_7delAGT

1 paper

NM_020761.3

p.E4A

c.11A>C

1 paper

NM_020761.3

p.E2_E4del3

c.4_11del9

1 paper

NM_020761.3

p.E2insFs

c.4dupG

1 paper

NM_020761.3

p.E2_E15ins4

c.4_45dup42

1 paper

NM_020761.3

p.M1insFs

c.2dupT

1 paper

NM_020761.3

p.M1insFs

c.2_3dupTG