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.I130M

c.390T>G

Surrounding Variants

5 papers

NM_004958.4

p.R132C

c.394C>T

2 papers

NM_004958.4

p.R132S

c.394C>A

3 papers

NM_004958.4

p.R132L

c.395G>T

1 paper

NM_004958.4

p.A129S

c.385G>T

1 paper

NM_004958.4

p.A129_I130insT

c.385_389ins3

1 paper

NM_004958.4

p.R132P

c.395G>C

14 papers

NM_004958.4

p.R132H

c.395G>A

1 paper

NM_004958.4

p.A129T

c.385G>A

1 paper

NM_004958.4

p.L133F

c.397C>T

3 papers

NM_004958.4

p.L133V

c.397C>G

4 papers

NM_004958.4

p.K128*

c.382A>T

2 papers

NM_004958.4

p.A134T

c.400G>A