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.L22L

c.66G>A

Surrounding Variants

1 paper

NM_004958.4

p.L22L

c.66G>C

1 paper

NM_004958.4

p.L22insFs

c.65_66ins4

1 paper

NM_004958.4

p.L22Q

c.65T>A

2 papers

NM_004958.4

p.Q23*

c.67C>T

1 paper

NM_004958.4

p.L22L

c.64C>T

1 paper

NM_004958.4

p.L22M

c.64C>A

1 paper

NM_004958.4

p.Q23insFs

c.68_69insA

1 paper

NM_004958.4

p.S20_V21insFs

c.58_61dup4

1 paper

NM_004958.4

p.V21L

c.61G>C

3 papers

NM_004958.4

p.V21I

c.61G>A

1 paper

NM_004958.4

p.Q24L

c.71A>T

1 paper

NM_004958.4

p.Q24P

c.71A>C