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.T14T

c.42C>A

Surrounding Variants

1 paper

NM_004958.4

p.T14_T15insFs

c.42_43insG

1 paper

NM_004958.4

p.A13A

c.39C>G

1 paper

NM_004958.4

p.S16P

c.46T>C

1 paper

NM_004958.4

p.S16T

c.46T>A

1 paper

NM_004958.4

p.A13insFs

c.38_39insGC

1 paper

NM_004958.4

p.A13D

c.38C>A

2 papers

NM_004958.4

p.A13S

c.37G>T

1 paper

NM_004958.4

p.A13P

c.37G>C

1 paper

NM_004958.4

p.A13T

c.37G>A

1 paper

NM_004958.4

p.A8_A12del0

c.24_35del12

1 paper

NM_004958.4

p.A12G

c.35C>G

1 paper

NM_004958.4

p.S17C

c.49A>T