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

35 papers

NM_004958.4

p.C1483R

c.4447T>C

Surrounding Variants

40 papers

NM_004958.4

p.C1483F

c.4448G>T

70 papers

NM_004958.4

p.C1483Y

c.4448G>A

2 papers

NM_004958.4

p.R1482P

c.4445G>C

2 papers

NM_004958.4

p.R1482H

c.4445G>A

2 papers

NM_004958.4

p.C1483W

c.4449C>G

1 paper

NM_004958.4

p.C1483*

c.4449C>A

7 papers

NM_004958.4

p.R1482C

c.4444C>T

3 papers

NM_004958.4

p.C1483del1

c.4447_4448delGCA

1 paper

NM_004958.4

p.L1484P

c.4451T>C

1 paper

NM_004958.4

p.L1484delFs

c.4451delA

2 papers

NM_004958.4

p.E1485K

c.4453G>A

2 papers

NM_004958.4

p.E1485G

c.4454A>G