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.A8A

c.24C>T

Surrounding Variants

1 paper

NM_004958.4

p.A8insFs

c.23dupC

6 papers

NM_004958.4

p.A9T

c.25G>A

1 paper

NM_004958.4

p.A8D

c.23C>A

7 papers

NM_004958.4

p.A8S

c.22G>T

4 papers

NM_004958.4

p.A8T

c.22G>A

1 paper

NM_004958.4

p.A9V

c.26C>T

1 paper

NM_004958.4

p.A7A

c.21C>T

1 paper

NM_004958.4

p.T10A

c.28A>G

1 paper

NM_004958.4

p.P6delFs

c.17_18delAG

1 paper

NM_004958.4

p.T10Fs

c.29delinsGTFs

2 papers

NM_004958.4

p.T10insFs

c.28_29insA

1 paper

NM_004958.4

p.T10N

c.29C>A