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

3 papers

NM_004958.4

p.R2430M

c.7289G>T

Surrounding Variants

12 papers

NM_004958.4

p.L2431P

c.7292T>C

1 paper

NM_004958.4

p.M2432K

c.7295T>A

2 papers

NM_004958.4

p.M2432I

c.7296G>T

2 papers

NM_004958.4

p.M2432I

c.7296G>C

2 papers

NM_004958.4

p.M2432I

c.7296G>A

1 paper

NM_004958.4

p.L2427L

c.7281G>A

31 papers

NM_004958.4

p.L2427R

c.7280T>G

40 papers

NM_004958.4

p.L2427P

c.7280T>C

44 papers

NM_004958.4

p.L2427Q

c.7280T>A

3 papers

NM_004958.4

p.L2427delins

c.7279_7280delinsAA

1 paper

NM_004958.4

p.T2434Splc

c.7300+1G>T

2 papers

NM_004958.4

p.P2425_L2426ins1

c.7275_7276insCCC