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

12 papers

NM_004958.4

p.S1851S

c.5553C>T

Surrounding Variants

1 paper

NM_004958.4

p.S1851R

c.5553C>G

1 paper

NM_004958.4

p.S1851R

c.5553C>A

1 paper

NM_004958.4

p.S1851delins

c.5552_5553delinsAT

1 paper

NM_004958.4

p.E1852K

c.5554G>A

1 paper

NM_004958.4

p.S1851R

c.5551A>C

1 paper

NM_004958.4

p.A1853A

c.5559C>T

1 paper

NM_004958.4

p.E1854*

c.5560G>T

3 papers

NM_004958.4

p.E1854K

c.5560G>A

1 paper

NM_004958.4

p.S1849N

c.5546G>A

1 paper

NM_004958.4

p.T1856T

c.5568C>A

2 papers

NM_004958.4

p.E1857K

c.5569G>A

1 paper

NM_004958.4

p.E1845D

c.5535G>T