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.S1189A

c.3565T>G

Surrounding Variants

1 paper

NM_020761.3

p.R1191L

c.3572G>T

1 paper

NM_020761.3

p.V1192_D1194del0

c.3574_3582del9

1 paper

NM_020761.3

p.V1192I

c.3574G>A

1 paper

NM_020761.3

p.G1186R

c.3556G>C

1 paper

NM_020761.3

p.M1197I

c.3591G>A

1 paper

NM_020761.3

p.M1197I

c.3591G>C

1 paper

NM_020761.3

p.M1197I

c.3591G>T

1 paper

NM_020761.3

p.L1180delFs

c.3540delC

1 paper

NM_020761.3

p.S1179_L1180insC

c.3535_3539ins3

1 paper

NM_020761.3

p.E1201K

c.3601G>A

1 paper

NM_020761.3

p.A1165S

c.3493G>T

1 paper

NM_020761.3

p.I1161V

c.3481A>G