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.K1981T

c.5942A>C

Surrounding Variants

5 papers

NM_004958.4

p.K1981E

c.5941A>G

1 paper

NM_004958.4

p.T1983T

c.5949C>A

2 papers

NM_004958.4

p.T1984M

c.5951C>T

2 papers

NM_004958.4

p.T1984T

c.5952G>A

34 papers

NM_004958.4

p.T1977I

c.5930C>T

1 paper

NM_004958.4

p.T1985I

c.5954C>T

35 papers

NM_004958.4

p.T1977R

c.5930C>G

70 papers

NM_004958.4

p.T1977K

c.5930C>A

3 papers

NM_004958.4

p.T1977S

c.5929A>T

1 paper

NM_004958.4

p.A1986T

c.5956G>A

1 paper

NM_004958.4

p.A1986G

c.5957C>G

1 paper

NM_004958.4

p.R1987W

c.5959C>T