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

70 papers

NM_004958.4

p.T1977K

c.5930C>A

Surrounding Variants

34 papers

NM_004958.4

p.T1977I

c.5930C>T

35 papers

NM_004958.4

p.T1977R

c.5930C>G

3 papers

NM_004958.4

p.T1977S

c.5929A>T

2 papers

NM_004958.4

p.P1975Q

c.5924C>A

1 paper

NM_004958.4

p.P1975S

c.5923C>T

1 paper

NM_004958.4

p.P1975A

c.5923C>G

1 paper

NM_004958.4

p.P1975T

c.5923C>A

1 paper

NM_004958.4

p.Y1974C

c.5921A>G

5 papers

NM_004958.4

p.Y1974H

c.5920T>C

5 papers

NM_004958.4

p.K1981E

c.5941A>G

1 paper

NM_004958.4

p.K1981T

c.5942A>C

25 papers

NM_004958.4

p.I1973F

c.5917A>T