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

72 papers

NM_004958.4

p.E2419K

c.7255G>A

Surrounding Variants

1 paper

NM_004958.4

p.E2419G

c.7256A>G

1 paper

NM_004958.4

p.L2418R

c.7253T>G

6 papers

NM_004958.4

p.E2419D

c.7257A>T

6 papers

NM_004958.4

p.E2419D

c.7257A>C

3 papers

NM_004958.4

p.A2420P

c.7258G>C

1 paper

NM_004958.4

p.A2420T

c.7258G>A

1 paper

NM_004958.4

p.E2419_A2420delins

c.7257_7258delinsCC

5 papers

NM_004958.4

p.A2420V

c.7259C>T

2 papers

NM_004958.4

p.E2419_A2420delins

c.7257_7259delinsTGT

4 papers

NM_004958.4

p.V2417M

c.7249G>A

1 paper

NM_004958.4

p.A2416A

c.7248C>T

1 paper

NM_004958.4

p.A2416Fs

c.7248delinsAGFs