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.S20S

c.60C>T

Surrounding Variants

1 paper

NM_004958.4

p.S20R

c.60C>G

1 paper

NM_004958.4

p.S20R

c.60C>A

1 paper

NM_004958.4

p.V21L

c.61G>C

6 papers

NM_004958.4

p.S20N

c.59G>A

3 papers

NM_004958.4

p.V21I

c.61G>A

1 paper

NM_004958.4

p.S20_V21insFs

c.58_61dup4

1 paper

NM_004958.4

p.S20G

c.58A>G

1 paper

NM_004958.4

p.S20R

c.58A>C

1 paper

NM_004958.4

p.V19V

c.57G>T

2 papers

NM_004958.4

p.V19A

c.56T>C

1 paper

NM_004958.4

p.V19E

c.56T>A

1 paper

NM_004958.4

p.L22L

c.64C>T