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.L16delFs

c.46delC

Surrounding Variants

1 paper

NM_021939.4

p.R13R

c.39G>T

1 paper

NM_021939.4

p.L16fs

c.46_47fs

1 paper

NM_021939.4

p.L12delFs

c.35delT

1 paper

NM_021939.4

p.Q18H

c.54G>C

1 paper

NM_021939.4

p.Q18H

c.54G>T

2 papers

NM_021939.4

p.S8insFs

c.23dupG

6 papers

NM_021939.4

p.S8fs

c.22_23fs

1 paper

NM_021939.4

p.P7insFs

c.19_20ins4

1 paper

NM_021939.4

p.P7fs

c.19_20fs

8 papers

NM_021939.4

p.P7insFs

c.21dupC

1 paper

NM_021939.4

p.P7delFs

c.21delC

1 paper

NM_021939.4

p.G5fs

c.13_14fs