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.Y2396*

c.7188C>G

Surrounding Variants

1 paper

NM_004958.4

p.Y2396*

c.7188C>A

1 paper

NM_004958.4

p.R2397I

c.7190G>T

1 paper

NM_004958.4

p.R2397T

c.7190G>C

1 paper

NM_004958.4

p.Y2396_R2397delFs

c.7188_7189delTG

1 paper

NM_004958.4

p.Y2396fs

c.7186_7187fs

1 paper

NM_004958.4

p.T2399_C2400insA

c.7195_7199ins3

1 paper

NM_004958.4

p.G2394S

c.7180G>A

1 paper

NM_004958.4

p.T2399I

c.7196C>T

2 papers

NM_004958.4

p.C2400Y

c.7199G>A

1 paper

NM_004958.4

p.L2392L

c.7176G>T

1 paper

NM_004958.4

p.C2400C

c.7200C>T

1 paper

NM_004958.4

p.T2399_C2400insFs

c.7195_7199dup5