Varaico: Literature-Extracted Genetic Variants

MTOR

3,894 papers

RefSeq Summary

The protein encoded by this gene belongs to a family of phosphatidylinositol kinase-related kinases. These kinases mediate cellular responses to stresses such as DNA damage and nutrient deprivation. T...

Pfam Domains

mTOR_domaa 854–1024UCSCSerine/threonine-protein kinase mTOR domain

FATaa 1513–1908UCSCFAT domain

HEAT_ATRaa 1918–2013UCSCSerine/threonine-protein kinase ATR-like, HEAT repeats

FRB_domaa 2015–2113UCSCFKBP12-rapamycin binding domain

PI3_PI4_kinaseaa 2181–2431UCSCPhosphatidylinositol 3- and 4-kinase

FATCaa 2518–2549UCSCFATC domain

Gene Aliases

HGNC Name

mechanistic target of rapamycin kinase

HGNC Previous Symbols

FRAP; FRAP2; FRAP1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_004958.4

p.R160H

c.479G>A

Surrounding Variants

2 papers

NM_004958.4

p.R160C

c.478C>T

1 paper

NM_004958.4

p.N161D

c.481A>G

2 papers

NM_004958.4

p.N161S

c.482A>G

1 paper

NM_004958.4

p.D159N

c.475G>A

1 paper

NM_004958.4

p.A158A

c.474T>C

1 paper

NM_004958.4

p.E162Q

c.484G>C

2 papers

NM_004958.4

p.A158V

c.473C>T

1 paper

NM_004958.4

p.A158G

c.473C>G

1 paper

NM_004958.4

p.A158D

c.473C>A

1 paper

NM_004958.4

p.E162V

c.485A>T

1 paper

NM_004958.4

p.A158P

c.472G>C

1 paper

NM_004958.4

p.W155_G157del3

c.463_470del9