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.A2325E

c.6974C>A

Surrounding Variants

1 paper

NM_004958.4

p.A2325V

c.6974C>T

2 papers

NM_004958.4

p.V2326F

c.6976G>T

1 paper

NM_004958.4

p.V2326A

c.6977T>C

1 paper

NM_004958.4

p.L2324_A2325ins8

c.6970_6974ins24

1 paper

NM_004958.4

p.V2326V

c.6978C>T

1 paper

NM_004958.4

p.M2327L

c.6979A>T

1 paper

NM_004958.4

p.M2327L

c.6979A>C

39 papers

NM_004958.4

p.M2327I

c.6981G>T

39 papers

NM_004958.4

p.M2327I

c.6981G>C

40 papers

NM_004958.4

p.M2327I

c.6981G>A

1 paper

NM_004958.4

p.R2322H

c.6965G>A

1 paper

NM_004958.4

p.M2329V

c.6985A>G