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.H69Q

c.207T>G

Surrounding Variants

1 paper

NM_004958.4

p.H69Q

c.207T>A

1 paper

NM_004958.4

p.T61_N68delFs

c.182_203del22

1 paper

NM_004958.4

p.N68insFs

c.203_204insA

1 paper

NM_004958.4

p.N68H

c.202A>C

1 paper

NM_004958.4

p.N68_H69insA

c.202_206ins3

2 papers

NM_004958.4

p.I71M

c.213T>G

1 paper

NM_004958.4

p.L67L

c.201G>T

2 papers

NM_004958.4

p.L67R

c.200T>G

1 paper

NM_004958.4

p.F72insFs

c.215_216ins13

2 papers

NM_004958.4

p.L67L

c.199C>T

1 paper

NM_004958.4

p.F72fs

c.214_215fs

1 paper

NM_004958.4

p.Q66Q

c.198A>G