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.M1I

c.3G>T

Surrounding Variants

1 paper

NM_004958.4

p.M1_L2insFs

c.3_4insTT

1 paper

NM_004958.4

p.M1insFs

c.2_3insTA

1 paper

NM_004958.4

p.M1_L2insFs

c.3_4insA

1 paper

NM_004958.4

p.M1I

c.3G>C

5 papers

NM_004958.4

p.M1I

c.3G>A

1 paper

NM_004958.4

p.M1delFs

c.2delA

1 paper

NM_004958.4

p.M1delFs

c.1_2delAT

1 paper

NM_004958.4

p.M1R

c.2T>G

1 paper

NM_004958.4

p.M1Fs

c.2delinsCTGFs

4 papers

NM_004958.4

p.M1T

c.2T>C

1 paper

NM_004958.4

p.L2V

c.4C>G

1 paper

NM_004958.4

p.M1insFs

c.3dupG