Varaico: Literature-Extracted Genetic Variants

FKBP10

218 papers

RefSeq Summary

The protein encoded by this gene belongs to the FKBP-type peptidyl-prolyl cis/trans isomerase (PPIase) family. This protein localizes to the endoplasmic reticulum and acts as a molecular chaperone. Al...

Pfam Domains

FKBP_Caa 55–147UCSCFKBP-type peptidyl-prolyl cis-trans isomerase

FKBP_Caa 167–259UCSCFKBP-type peptidyl-prolyl cis-trans isomerase

FKBP_Caa 279–371UCSCFKBP-type peptidyl-prolyl cis-trans isomerase

FKBP_Caa 392–483UCSCFKBP-type peptidyl-prolyl cis-trans isomerase

EF-hand_5aa 503–526UCSCEF hand

EF-hand_5aa 547–569UCSCEF hand

Gene Aliases

HGNC Name

FKBP prolyl isomerase 10

HGNC Alias Symbols

hFKBP65; FKBP65; FLJ22041; FLJ20683; FLJ23833

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

10 papers

NM_021939.4

p.P248insFs

c.743dupC

Surrounding Variants

1 paper

NM_021939.4

p.I246T

c.737T>C

1 paper

NM_021939.4

p.P248_Q249del0

c.742_747del6

2 papers

NM_021939.4

p.T244T

c.732A>G

2 papers

NM_021939.4

p.Q249*

c.745C>T

2 papers

NM_021939.4

p.Q249fs

c.745_746fs

1 paper

NM_021939.4

p.A250_H255delFs

c.748_763del16

1 paper

NM_021939.4

p.V253_F254ins1

c.759_760insAAT

1 paper

NM_021939.4

p.F254delFs

c.762delT

1 paper

NM_021939.4

p.F254L

c.760T>C

2 papers

NM_021939.4

p.F254Y

c.761T>A

1 paper

NM_021939.4

p.F254L

c.762T>A

1 paper

NM_021939.4

p.F254L

c.762T>G