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.W185L

c.554G>T

Surrounding Variants

1 paper

NM_020761.3

p.S188C

c.562A>T

1 paper

NM_020761.3

p.P189S

c.565C>T

1 paper

NM_020761.3

p.D181A

c.542A>C

1 paper

NM_020761.3

p.P189L

c.566C>T

1 paper

NM_020761.3

p.D181N

c.541G>A

2 papers

NM_020761.3

p.D195N

c.583G>A

1 paper

NM_020761.3

p.I175V

c.523A>G

1 paper

NM_020761.3

p.T172A

c.514A>G

1 paper

NM_020761.3

p.L201F

c.603G>C

1 paper

NM_020761.3

p.L201F

c.603G>T

2 papers

NM_020761.3

p.V203I

c.607G>A

1 paper

NM_020761.3

p.K204_E214del11

c.610_641del33