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.E1475E

c.4425G>A

Surrounding Variants

1 paper

NM_004958.4

p.P1474R

c.4421C>G

1 paper

NM_004958.4

p.P1474Q

c.4421C>A

1 paper

NM_004958.4

p.P1474T

c.4420C>A

2 papers

NM_004958.4

p.D1473E

c.4419C>G

2 papers

NM_004958.4

p.D1473E

c.4419C>A

1 paper

NM_004958.4

p.L1478M

c.4432C>A

1 paper

NM_004958.4

p.D1473G

c.4418A>G

1 paper

NM_004958.4

p.D1473Y

c.4417G>T

1 paper

NM_004958.4

p.D1473H

c.4417G>C

1 paper

NM_004958.4

p.D1473N

c.4417G>A

1 paper

NM_004958.4

p.L1478L

c.4434G>T

2 papers

NM_004958.4

p.K1471N

c.4413G>T