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.E311K

c.931G>A

Surrounding Variants

1 paper

NM_020761.3

p.T307M

c.920C>T

1 paper

NM_020761.3

p.D304A

c.911A>C

1 paper

NM_020761.3

p.D304N

c.910G>A

1 paper

NM_020761.3

p.A318V

c.953C>T

1 paper

NM_020761.3

p.A318A

c.954C>T

1 paper

NM_020761.3

p.L302L

c.906G>A

2 papers

NM_020761.3

p.R301H

c.902G>A

1 paper

NM_020761.3

p.D321fs

c.961_962fs

1 paper

NM_020761.3

p.T322S

c.964A>T

1 paper

NM_020761.3

p.P299S

c.895C>T

1 paper

NM_020761.3

p.I298L

c.892A>C

3 papers

NM_020761.3

p.A324T

c.970G>A