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.E1871K

c.5611G>A

Surrounding Variants

5 papers

NM_004958.4

p.T1870S

c.5609C>G

1 paper

NM_004958.4

p.E1871_D1872Splc

c.5613+1G>A

4 papers

NM_004958.4

p.T1870S

c.5608A>T

1 paper

NM_004958.4

p.V1869V

c.5607C>A

1 paper

NM_004958.4

p.K1868N

c.5604G>T

1 paper

NM_004958.4

p.K1868N

c.5604G>C

1 paper

NM_004958.4

p.E1871_D1872Splc

c.5613+6C>A

3 papers

NM_004958.4

p.Q1866H

c.5598G>T

3 papers

NM_004958.4

p.Q1866H

c.5598G>C

1 paper

NM_004958.4

p.Q1866*

c.5596C>T

1 paper

NM_004958.4

p.L1865M

c.5593C>A

1 paper

NM_004958.4

p.P1864P

c.5592G>A