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.R83K

c.248G>A

Surrounding Variants

1 paper

NM_004958.4

p.R83M

c.248G>T

1 paper

NM_004958.4

p.E82D

c.246G>T

1 paper

NM_004958.4

p.E82D

c.246G>C

1 paper

NM_004958.4

p.K84I

c.251A>T

1 paper

NM_004958.4

p.E82A

c.245A>C

1 paper

NM_004958.4

p.A80_E82ins1

c.239_244dup6

1 paper

NM_004958.4

p.E82K

c.244G>A

1 paper

NM_004958.4

p.K84K

c.252A>G

1 paper

NM_004958.4

p.N81K

c.243T>G

1 paper

NM_004958.4

p.N81K

c.243T>A

2 papers

NM_004958.4

p.G85R

c.253G>C

1 paper

NM_004958.4

p.G85V

c.254G>T