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.R309H

c.926G>A

Surrounding Variants

2 papers

NM_021939.4

p.S308F

c.923C>T

1 paper

NM_021939.4

p.S306Splc

c.918-2A>G

4 papers

NM_021939.4

p.S306Splc

c.918-3C>G

1 paper

NM_021939.4

p.N314_G325del12

c.940_974del36

5 papers

NM_021939.4

p.Y316insFs

c.948dupT

3 papers

NM_021939.4

p.I317insFs

c.950_951dupTC

1 paper

NM_021939.4

p.I317fs

c.949_950fs

3 papers

NM_021939.4

p.M326delFs

c.976delA

1 paper

NM_021939.4

p.M326fs

c.976_977fs

1 paper

NM_021939.4

p.M326V

c.976A>G

2 papers

NM_021939.4

p.M326fs

c.976_977fs

1 paper

NM_021939.4

p.G329E

c.986G>A