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

1–12 of 3391 variants

133 papers

NM_004958.4

p.S2215Y

c.6644C>A

132 papers

NM_004958.4

p.S2215F

c.6644C>T

100 papers

NM_004958.4

p.E1799K

c.5395G>A

72 papers

NM_004958.4

p.E2419K

c.7255G>A

70 papers

NM_004958.4

p.L1460P

c.4379T>C

70 papers

NM_004958.4

p.C1483Y

c.4448G>A

70 papers

NM_004958.4

p.T1977K

c.5930C>A

44 papers

NM_004958.4

p.L2427Q

c.7280T>A

40 papers

NM_004958.4

p.C1483F

c.4448G>T

40 papers

NM_004958.4

p.M2327I

c.6981G>A

40 papers

NM_004958.4

p.L2427P

c.7280T>C

40 papers

NM_004958.4

p.I2500F

c.7498A>T