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.K1452R

c.4355A>G

Surrounding Variants

10 papers

NM_004958.4

p.K1452N

c.4356A>T

10 papers

NM_004958.4

p.K1452N

c.4356A>C

2 papers

NM_004958.4

p.A1447_E1451del0

c.4339_4353del15

1 paper

NM_004958.4

p.L1453P

c.4358T>C

1 paper

NM_004958.4

p.Y1450_L1453del0

c.4348_4359del12

1 paper

NM_004958.4

p.Y1450C

c.4349A>G

1 paper

NM_004958.4

p.Y1450S

c.4349A>C

18 papers

NM_004958.4

p.Y1450D

c.4348T>G

1 paper

NM_004958.4

p.Y1450_H1454del0

c.4350_4361del12

1 paper

NM_004958.4

p.W1449fs

c.4345_4346fs

1 paper

NM_004958.4

p.L1453_H1454del2

c.4357_4361del6

1 paper

NM_004958.4

p.W1449L

c.4346G>T