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.T1834_T1841del0

c.5502_5522del21

Surrounding Variants

1 paper

NM_004958.4

p.T1840I

c.5519C>T

1 paper

NM_004958.4

p.S1843R

c.5527A>C

1 paper

NM_004958.4

p.T1840P

c.5518A>C

1 paper

NM_004958.4

p.T1839_T1840delins

c.5517_5518delinsTC

1 paper

NM_004958.4

p.T1839T

c.5517C>T

1 paper

NM_004958.4

p.S1843R

c.5529C>G

1 paper

NM_004958.4

p.S1843R

c.5529C>A

1 paper

NM_004958.4

p.T1839S

c.5516C>G

1 paper

NM_004958.4

p.T1844A

c.5530A>G

1 paper

NM_004958.4

p.T1839S

c.5515A>T

3 papers

NM_004958.4

p.T1839A

c.5515A>G

2 papers

NM_004958.4

p.T1839P

c.5515A>C