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.Q1807L

c.5420A>T

Surrounding Variants

1 paper

NM_004958.4

p.Q1807H

c.5421G>T

1 paper

NM_004958.4

p.Q1807H

c.5421G>C

2 papers

NM_004958.4

p.A1810S

c.5428G>T

1 paper

NM_004958.4

p.A1810P

c.5428G>C

3 papers

NM_004958.4

p.R1811C

c.5431C>T

1 paper

NM_004958.4

p.R1811S

c.5431C>A

4 papers

NM_004958.4

p.R1811H

c.5432G>A

1 paper

NM_004958.4

p.D1812H

c.5434G>C

3 papers

NM_004958.4

p.D1812N

c.5434G>A

1 paper

NM_004958.4

p.E1813*

c.5437G>T

2 papers

NM_004958.4

p.E1813Q

c.5437G>C

1 paper

NM_004958.4

p.E1813K

c.5437G>A