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.K1788_A1789Splc

c.5365-5A>G

Surrounding Variants

1 paper

NM_004958.4

p.K1788_A1789Splc

c.5365-6A>T

2 papers

NM_004958.4

p.A1789T

c.5365G>A

1 paper

NM_004958.4

p.K1788_A1789Splc

c.5365-10C>T

1 paper

NM_004958.4

p.W1790L

c.5369G>T

1 paper

NM_004958.4

p.H1791N

c.5371C>A

1 paper

NM_004958.4

p.H1791R

c.5372A>G

1 paper

NM_004958.4

p.H1791Q

c.5373T>G

1 paper

NM_004958.4

p.H1791H

c.5373T>C

1 paper

NM_004958.4

p.H1791Q

c.5373T>A

1 paper

NM_004958.4

p.A1792P

c.5374G>C

6 papers

NM_004958.4

p.A1792V

c.5375C>T

1 paper

NM_004958.4

p.W1793L

c.5378G>T