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

1 paper

NM_021939.4

p.L41fs

c.121_122fs

Surrounding Variants

1 paper

NM_021939.4

p.E42insFs

c.124_125ins8

6 papers

NM_021939.4

p.L41_P52delFs

c.122_156del35

1 paper

NM_021939.4

p.V45F

c.133G>T

1 paper

NM_021939.4

p.E47G

c.140A>G

1 paper

NM_021939.4

p.P52P

c.156C>A

1 paper

NM_021939.4

p.G28G

c.84G>T

1 paper

NM_021939.4

p.G28V

c.83G>T

1 paper

NM_021939.4

p.A26insFs

c.77dupC

1 paper

NM_021939.4

p.V24V

c.72G>T

1 paper

NM_021939.4

p.V24delFs

c.72delG

3 papers

NM_021939.4

p.Q60P

c.179A>C

1 paper

NM_021939.4

p.Q18H

c.54G>C