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

1 paper

NM_004958.4

p.A26A

c.78C>G

Surrounding Variants

1 paper

NM_004958.4

p.A26A

c.78C>A

1 paper

NM_004958.4

p.A26V

c.77C>T

1 paper

NM_004958.4

p.A26G

c.77C>G

1 paper

NM_004958.4

p.S27C

c.79A>T

2 papers

NM_004958.4

p.S27insFs

c.79dupA

1 paper

NM_004958.4

p.A26T

c.76G>A

1 paper

NM_004958.4

p.S27_G28insFs

c.81_82insCT

1 paper

NM_004958.4

p.F25L

c.75T>G

1 paper

NM_004958.4

p.F25L

c.75T>A

1 paper

NM_004958.4

p.G28R

c.82G>C

1 paper

NM_004958.4

p.G28S

c.82G>A

1 paper

NM_004958.4

p.F25L

c.73T>C