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.S127F

c.380C>T

Surrounding Variants

1 paper

NM_004958.4

p.S127T

c.379T>A

4 papers

NM_004958.4

p.K128*

c.382A>T

1 paper

NM_004958.4

p.A126V

c.377C>T

2 papers

NM_004958.4

p.A126T

c.376G>A

1 paper

NM_004958.4

p.A129S

c.385G>T

1 paper

NM_004958.4

p.M125I

c.375G>T

1 paper

NM_004958.4

p.A129_I130insT

c.385_389ins3

1 paper

NM_004958.4

p.M125I

c.375G>C

1 paper

NM_004958.4

p.A129T

c.385G>A

1 paper

NM_004958.4

p.M125I

c.375G>A

1 paper

NM_004958.4

p.M125_A126insATG

c.373_377ins9

1 paper

NM_004958.4

p.E124D

c.372A>T