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.E124D

c.372A>T

Surrounding Variants

1 paper

NM_004958.4

p.E124D

c.372A>C

1 paper

NM_004958.4

p.E124G

c.371A>G

1 paper

NM_004958.4

p.M125_A126insATG

c.373_377ins9

1 paper

NM_004958.4

p.E124Q

c.370G>C

1 paper

NM_004958.4

p.M125I

c.375G>T

1 paper

NM_004958.4

p.M125I

c.375G>C

1 paper

NM_004958.4

p.M125I

c.375G>A

1 paper

NM_004958.4

p.M123I

c.369G>A

2 papers

NM_004958.4

p.A126T

c.376G>A

1 paper

NM_004958.4

p.A126V

c.377C>T

1 paper

NM_004958.4

p.V122del1

c.364_365delGAC

1 paper

NM_004958.4

p.S127T

c.379T>A