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.G2391D

c.7172G>A

Surrounding Variants

1 paper

NM_004958.4

p.G2391G

c.7173C>T

1 paper

NM_004958.4

p.L2392_D2393ins4

c.7174_7178ins12

1 paper

NM_004958.4

p.T2390I

c.7169C>T

1 paper

NM_004958.4

p.L2392L

c.7176G>T

1 paper

NM_004958.4

p.V2389A

c.7166T>C

1 paper

NM_004958.4

p.E2388_V2389Splc

c.7165-1G>T

1 paper

NM_004958.4

p.G2394S

c.7180G>A

1 paper

NM_004958.4

p.E2388_V2389Splc

c.7165-2A>C

1 paper

NM_004958.4

p.Y2396fs

c.7186_7187fs

1 paper

NM_004958.4

p.Y2396*

c.7188C>G

1 paper

NM_004958.4

p.Y2396*

c.7188C>A

1 paper

NM_004958.4

p.R2397I

c.7190G>T