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

8 papers

NM_020761.3

p.A467T

c.1399G>A

Surrounding Variants

1 paper

NM_020761.3

p.V476_L477ins8

c.1428_1429ins24

1 paper

NM_020761.3

p.G471D

c.1412G>A

1 paper

NM_020761.3

p.F473I

c.1417T>A

1 paper

NM_020761.3

p.V476M

c.1426G>A

1 paper

NM_020761.3

p.S483L

c.1448C>T

1 paper

NM_020761.3

p.R485G

c.1453C>G

1 paper

NM_020761.3

p.E486D

c.1458G>C

1 paper

NM_020761.3

p.E486D

c.1458G>T

1 paper

NM_020761.3

p.V492F

c.1474G>T

2 papers

NM_020761.3

p.A500T

c.1498G>A

1 paper

NM_020761.3

p.D502N

c.1504G>A

1 paper

NM_020761.3

p.S503_S504Splc

c.1509+7A>G