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

4 papers

NM_020761.3

p.S722A

c.2164T>G

Surrounding Variants

1 paper

NM_020761.3

p.S719A

c.2155T>G

3 papers

NM_020761.3

p.R718C

c.2152C>T

1 paper

NM_020761.3

p.I726M

c.2178C>G

1 paper

NM_020761.3

p.A728D

c.2183C>A

1 paper

NM_020761.3

p.T714T

c.2142C>T

1 paper

NM_020761.3

p.A730T

c.2188G>A

1 paper

NM_020761.3

p.S711N

c.2132G>A

1 paper

NM_020761.3

p.R733W

c.2197A>T

1 paper

NM_020761.3

p.K737E

c.2209A>G

1 paper

NM_020761.3

p.G702E

c.2105G>A

1 paper

NM_020761.3

p.S743R

c.2227A>C

1 paper

NM_020761.3

p.S743R

c.2229T>A