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.K32*

c.94A>T

Surrounding Variants

1 paper

NM_020761.3

p.M31I

c.93G>A

2 papers

NM_020761.3

p.F30F

c.90T>C

1 paper

NM_020761.3

p.L28fs

c.82_83fs

1 paper

NM_020761.3

p.G41R

c.121G>C

1 paper

NM_020761.3

p.D20V

c.59A>T

1 paper

NM_020761.3

p.E18V

c.53A>T

1 paper

NM_020761.3

p.A46S

c.136G>T

1 paper

NM_020761.3

p.A46D

c.137C>A

1 paper

NM_020761.3

p.E15insFs

c.45dupG

1 paper

NM_020761.3

p.R50T

c.149G>C

3 papers

NM_020761.3

p.G12D

c.35G>A

1 paper

NM_020761.3

p.G12V

c.35G>T