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.D1151G

c.3452A>G

Surrounding Variants

2 papers

NM_020761.3

p.D1151N

c.3451G>A

4 papers

NM_020761.3

p.V1147I

c.3439G>A

1 paper

NM_020761.3

p.I1146I

c.3438C>T

1 paper

NM_020761.3

p.R1145W

c.3433C>T

1 paper

NM_020761.3

p.V1144M

c.3430G>A

1 paper

NM_020761.3

p.D1143D

c.3429C>T

1 paper

NM_020761.3

p.D1143G

c.3428A>G

2 papers

NM_020761.3

p.T1135A

c.3403A>G

1 paper

NM_020761.3

p.E1134K

c.3400G>A

1 paper

NM_020761.3

p.Q1133K

c.3397C>A

1 paper

NM_020761.3

p.W1131L

c.3392G>T

1 paper

NM_020761.3

p.I1161V

c.3481A>G