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.V149M

c.445G>A

Surrounding Variants

1 paper

NM_004958.4

p.E148G

c.443A>G

2 papers

NM_004958.4

p.E148Q

c.442G>C

1 paper

NM_004958.4

p.E148K

c.442G>A

2 papers

NM_004958.4

p.K150M

c.449A>T

1 paper

NM_004958.4

p.K150N

c.450G>C

1 paper

NM_004958.4

p.K150K

c.450G>A

1 paper

NM_004958.4

p.R151*

c.451C>T

1 paper

NM_004958.4

p.R151R

c.451C>A

2 papers

NM_004958.4

p.R151Q

c.452G>A

1 paper

NM_004958.4

p.E146*

c.436G>T

1 paper

NM_004958.4

p.A152P

c.454G>C

2 papers

NM_004958.4

p.A152T

c.454G>A