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.Y1463H

c.4387T>C

Surrounding Variants

1 paper

NM_004958.4

p.Y1463C

c.4388A>G

5 papers

NM_004958.4

p.Y1463S

c.4388A>C

1 paper

NM_004958.4

p.V1461_Y1463del0

c.4382_4387del6

1 paper

NM_004958.4

p.D1464G

c.4391A>G

2 papers

NM_004958.4

p.V1461A

c.4382T>C

1 paper

NM_004958.4

p.V1461L

c.4381G>T

1 paper

NM_004958.4

p.V1461L

c.4381G>C

70 papers

NM_004958.4

p.L1460P

c.4379T>C

1 paper

NM_004958.4

p.A1459_L1460del1

c.4376_4378delGGG

2 papers

NM_004958.4

p.K1465N

c.4395G>T

2 papers

NM_004958.4

p.K1465N

c.4395G>C

1 paper

NM_004958.4

p.H1454_K1465del0

c.4362_4394del33