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.L1865M

c.5593C>A

Surrounding Variants

1 paper

NM_004958.4

p.P1864P

c.5592G>A

3 papers

NM_004958.4

p.P1864L

c.5591C>T

1 paper

NM_004958.4

p.P1864Q

c.5591C>A

1 paper

NM_004958.4

p.Q1866*

c.5596C>T

1 paper

NM_004958.4

p.S1863S

c.5589G>A

3 papers

NM_004958.4

p.Q1866H

c.5598G>T

3 papers

NM_004958.4

p.Q1866H

c.5598G>C

1 paper

NM_004958.4

p.S1863L

c.5588C>T

1 paper

NM_004958.4

p.P1862Q

c.5585C>A

1 paper

NM_004958.4

p.P1862T

c.5584C>A

1 paper

NM_004958.4

p.T1861T

c.5583C>A

1 paper

NM_004958.4

p.K1868N

c.5604G>T