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.D1458_A1459ins0

c.4373_4375dupATG

Surrounding Variants

9 papers

NM_004958.4

p.A1459V

c.4376C>T

1 paper

NM_004958.4

p.A1459G

c.4376C>G

1 paper

NM_004958.4

p.E1457_A1459ins1

c.4370_4375dup6

3 papers

NM_004958.4

p.E1455_A1459ins1

c.4364_4375dup12

36 papers

NM_004958.4

p.A1459D

c.4376C>A

4 papers

NM_004958.4

p.A1459S

c.4375G>T

18 papers

NM_004958.4

p.A1459P

c.4375G>C

2 papers

NM_004958.4

p.A1459T

c.4375G>A

1 paper

NM_004958.4

p.A1459_L1460ins1

c.4377_4378insTCC

1 paper

NM_004958.4

p.A1459A

c.4377C>A

1 paper

NM_004958.4

p.L1460I

c.4378C>A

70 papers

NM_004958.4

p.L1460P

c.4379T>C