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

100 papers

NM_004958.4

p.E1799K

c.5395G>A

Surrounding Variants

1 paper

NM_004958.4

p.F1798F

c.5394C>T

1 paper

NM_004958.4

p.A1800V

c.5399C>T

1 paper

NM_004958.4

p.V1801M

c.5401G>A

1 paper

NM_004958.4

p.N1797fs

c.5389_5390fs

1 paper

NM_004958.4

p.V1801G

c.5402T>G

1 paper

NM_004958.4

p.M1796_N1797insFs

c.5388_5389insC

1 paper

NM_004958.4

p.M1796V

c.5386A>G

1 paper

NM_004958.4

p.V1795M

c.5383G>A

1 paper

NM_004958.4

p.W1793L

c.5378G>T

6 papers

NM_004958.4

p.A1792V

c.5375C>T

1 paper

NM_004958.4

p.A1792P

c.5374G>C

1 paper

NM_004958.4

p.H1791Q

c.5373T>G