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

2 papers

NM_004958.4

p.R106T

c.317G>C

Surrounding Variants

1 paper

NM_004958.4

p.R106K

c.317G>A

1 paper

NM_004958.4

p.G105_R106delFs

c.314_317del4

1 paper

NM_004958.4

p.G105fs

c.313_314fs

3 papers

NM_004958.4

p.A108V

c.323C>T

1 paper

NM_004958.4

p.A108G

c.323C>G

1 paper

NM_004958.4

p.A108delins

c.322_323delinsTT

2 papers

NM_004958.4

p.F107_A108delins

c.320_323delinsATTT

1 paper

NM_004958.4

p.R103R

c.309A>G

1 paper

NM_004958.4

p.R103L

c.308G>T

1 paper

NM_004958.4

p.R103P

c.308G>C

6 papers

NM_004958.4

p.R103Q

c.308G>A

1 paper

NM_004958.4

p.T102delFs

c.306delG