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

4 papers

NM_004958.4

p.T1830_T1834del5

c.5488_5501del15

Surrounding Variants

6 papers

NM_004958.4

p.T1830_T1834del0

c.5490_5501del12

1 paper

NM_004958.4

p.A1835V

c.5504C>T

1 paper

NM_004958.4

p.A1835D

c.5504C>A

8 papers

NM_004958.4

p.T1834M

c.5501C>T

6 papers

NM_004958.4

p.A1836T

c.5506G>A

1 paper

NM_004958.4

p.A1836V

c.5507C>T

1 paper

NM_004958.4

p.A1831del1

c.5491_5492delGGC

7 papers

NM_004958.4

p.A1832T

c.5494G>A

2 papers

NM_004958.4

p.A1838V

c.5513C>T

1 paper

NM_004958.4

p.T1839S

c.5515A>T

3 papers

NM_004958.4

p.T1839A

c.5515A>G

2 papers

NM_004958.4

p.T1839P

c.5515A>C