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.Q2499R

c.7496A>G

Surrounding Variants

1 paper

NM_004958.4

p.Q2499K

c.7495C>A

40 papers

NM_004958.4

p.I2500F

c.7498A>T

9 papers

NM_004958.4

p.I2500N

c.7499T>A

14 papers

NM_004958.4

p.I2500M

c.7500T>G

13 papers

NM_004958.4

p.I2501F

c.7501A>T

7 papers

NM_004958.4

p.I2501V

c.7501A>G

1 paper

NM_004958.4

p.A2497G

c.7490C>G

2 papers

NM_004958.4

p.R2503M

c.7508G>T

1 paper

NM_004958.4

p.R2503K

c.7508G>A

1 paper

NM_004958.4

p.R2503S

c.7509G>T

1 paper

NM_004958.4

p.R2503S

c.7509G>C

1 paper

NM_004958.4

p.N2494delFs

c.7481delT