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.G94D

c.281G>A

Surrounding Variants

4 papers

NM_021939.4

p.G96insFs

c.288dupG

1 paper

NM_021939.4

p.G96_G101del0

c.287_301del15

1 paper

NM_021939.4

p.G96_T100delFs

c.287_300del14

1 paper

NM_021939.4

p.R97fs

c.289_290fs

1 paper

NM_021939.4

p.L98V

c.292C>G

1 paper

NM_021939.4

p.I91_V93del0

c.271_279del9

3 papers

NM_021939.4

p.R104*

c.310C>T

1 paper

NM_021939.4

p.G105_M109del0

c.314_325del12

12 papers

NM_021939.4

p.M107_I118del0

c.321_353del33

1 paper

NM_021939.4

p.L106F

c.316C>T

1 paper

NM_021939.4

p.C110Y

c.329G>A

1 paper

NM_021939.4

p.N112_P121insFs

c.336_361dup26