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

2 papers

NM_021939.4

p.I118fs

c.352_353fs

Surrounding Variants

1 paper

NM_021939.4

p.I118fs

c.352_353fs

4 papers

NM_021939.4

p.I118delFs

c.354delT

2 papers

NM_021939.4

p.L117del1

c.349_350delCTC

1 paper

NM_021939.4

p.P120S

c.358C>T

10 papers

NM_021939.4

p.R115Q

c.344G>A

1 paper

NM_021939.4

p.P121delFs

c.361delC

1 paper

NM_021939.4

p.P121fs

c.361_362fs

2 papers

NM_021939.4

p.R115*

c.343C>T

1 paper

NM_021939.4

p.R114Q

c.341G>A

6 papers

NM_021939.4

p.E113K

c.337G>A

1 paper

NM_021939.4

p.N112_P121insFs

c.336_361dup26

1 paper

NM_021939.4

p.G124_Y125ins8

c.370_374ins24