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.L2005M

c.6013C>A

Surrounding Variants

1 paper

NM_004958.4

p.T2004T

c.6012C>A

15 papers

NM_004958.4

p.V2006F

c.6016G>T

12 papers

NM_004958.4

p.V2006L

c.6016G>C

11 papers

NM_004958.4

p.V2006I

c.6016G>A

1 paper

NM_004958.4

p.V2006A

c.6017T>C

1 paper

NM_004958.4

p.N2003S

c.6008A>G

1 paper

NM_004958.4

p.Q2007K

c.6019C>A

1 paper

NM_004958.4

p.S2002G

c.6004A>G

1 paper

NM_004958.4

p.Q2008R

c.6023A>G

1 paper

NM_004958.4

p.H2001Y

c.6001C>T

1 paper

NM_004958.4

p.E2000delFs

c.6000delC

1 paper

NM_004958.4

p.E2000fs

c.5998_5999fs