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.L1443_E1444Splc

c.4330-1G>C

Surrounding Variants

1 paper

NM_004958.4

p.E1444K

c.4330G>A

1 paper

NM_004958.4

p.L1443_E1444Splc

c.4330-3C>G

1 paper

NM_004958.4

p.T1448S

c.4342A>T

1 paper

NM_004958.4

p.T1448P

c.4342A>C

1 paper

NM_004958.4

p.T1448S

c.4343C>G

1 paper

NM_004958.4

p.T1448_W1449insFs

c.4344_4345insT

2 papers

NM_004958.4

p.W1449R

c.4345T>C

2 papers

NM_004958.4

p.W1449R

c.4345T>A

1 paper

NM_004958.4

p.W1449L

c.4346G>T

1 paper

NM_004958.4

p.W1449fs

c.4345_4346fs

18 papers

NM_004958.4

p.Y1450D

c.4348T>G

1 paper

NM_004958.4

p.Y1450C

c.4349A>G