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

8 papers

NM_021939.4

p.Y293del1

c.877_878delTAC

Surrounding Variants

1 paper

NM_021939.4

p.Y293delFs

c.879delC

1 paper

NM_021939.4

p.Y293*

c.879C>A

1 paper

NM_021939.4

p.Y293*

c.879C>G

1 paper

NM_021939.4

p.Y291del1

c.871_873delTAC

1 paper

NM_021939.4

p.N294K

c.882T>G

4 papers

NM_021939.4

p.L297_D299insFs

c.890_897dup8

1 paper

NM_021939.4

p.D287_G300del14

c.859_899del42

1 paper

NM_021939.4

p.D287_T301del15

c.859_902del45

1 paper

NM_021939.4

p.G286R

c.856G>A

1 paper

NM_021939.4

p.G286R

c.856G>C

1 paper

NM_021939.4

p.G286fs

c.856_857fs

1 paper

NM_021939.4

p.D287insFs

c.859dupG