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.L2216I

c.6646C>A

Surrounding Variants

1 paper

NM_004958.4

p.L2216R

c.6647T>G

6 papers

NM_004958.4

p.L2216P

c.6647T>C

10 papers

NM_004958.4

p.L2216H

c.6647T>A

1 paper

NM_004958.4

p.S2215delins

c.6643_6645delinsAAA

132 papers

NM_004958.4

p.S2215F

c.6644C>T

133 papers

NM_004958.4

p.S2215Y

c.6644C>A

9 papers

NM_004958.4

p.S2215P

c.6643T>C

3 papers

NM_004958.4

p.S2215T

c.6643T>A

13 papers

NM_004958.4

p.R2217W

c.6649C>T

1 paper

NM_004958.4

p.R2217L

c.6650G>T

2 papers

NM_004958.4

p.K2218E

c.6652A>G

1 paper

NM_004958.4

p.P2213L

c.6638C>T