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

1–12 of 645 variants

10 papers

NM_020761.3

p.A862T

c.2584G>A

8 papers

NM_020761.3

p.A467T

c.1399G>A

5 papers

NM_020761.3

p.A765T

c.2293G>A

4 papers

NM_020761.3

p.S722A

c.2164T>G

4 papers

NM_020761.3

p.S792A

c.2374T>G

4 papers

NM_020761.3

p.V1147I

c.3439G>A

3 papers

NM_020761.3

p.G12D

c.35G>A

3 papers

NM_020761.3

p.D89Splc

c.266-6C>T

3 papers

NM_020761.3

p.G103S

c.307G>A

3 papers

NM_020761.3

p.E218_V219Splc

c.654+6C>T

3 papers

NM_020761.3

p.A324T

c.970G>A

3 papers

NM_020761.3

p.R330Q

c.989G>A