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.F2202L

c.6606C>G

Surrounding Variants

2 papers

NM_004958.4

p.F2202L

c.6606C>A

9 papers

NM_004958.4

p.F2202C

c.6605T>G

1 paper

NM_004958.4

p.F2202S

c.6605T>C

1 paper

NM_004958.4

p.G2203S

c.6607G>A

2 papers

NM_004958.4

p.F2202L

c.6604T>C

1 paper

NM_004958.4

p.L2204L

c.6612G>T

1 paper

NM_004958.4

p.V2205F

c.6613G>T

4 papers

NM_004958.4

p.N2206S

c.6617A>G

9 papers

NM_004958.4

p.V2198A

c.6593T>C

1 paper

NM_004958.4

p.T2207T

c.6621C>A

1 paper

NM_004958.4

p.R2197L

c.6590G>T

1 paper

NM_004958.4

p.R2197H

c.6590G>A