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

6 papers

NM_004958.4

p.S76S

c.228C>T

Surrounding Variants

1 paper

NM_004958.4

p.S76_S77insFs

c.228_229insA

1 paper

NM_004958.4

p.S76S

c.228C>A

1 paper

NM_004958.4

p.S76C

c.227C>G

1 paper

NM_004958.4

p.V75V

c.225T>A

4 papers

NM_004958.4

p.S78A

c.232T>G

1 paper

NM_004958.4

p.H69_L74insFs

c.206_222dup17

1 paper

NM_004958.4

p.S78insFs

c.234dupA

1 paper

NM_004958.4

p.D79H

c.235G>C

2 papers

NM_004958.4

p.D79N

c.235G>A

1 paper

NM_004958.4

p.Q66_E73del0

c.198_218del21

1 paper

NM_004958.4

p.D79G

c.236A>G

1 paper

NM_004958.4

p.S76_D79delFs

c.227_236del10