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.G350V

c.1049G>T

Surrounding Variants

1 paper

NM_021939.4

p.E351K

c.1051G>A

1 paper

NM_021939.4

p.E351*

c.1051G>T

1 paper

NM_021939.4

p.G353E

c.1058G>A

1 paper

NM_021939.4

p.G355*

c.1063G>T

1 paper

NM_021939.4

p.G355Splc

c.1063+2T>C

1 paper

NM_021939.4

p.P345insFs

c.1034dupC

1 paper

NM_021939.4

p.T342delFs

c.1026delC

3 papers

NM_021939.4

p.T342fs

c.1024_1025fs

1 paper

NM_021939.4

p.T342insFs

c.1024dupA

1 paper

NM_021939.4

p.R340K

c.1019G>A

3 papers

NM_021939.4

p.R339Q

c.1016G>A

9 papers

NM_021939.4

p.R339_I341insFs

c.1016_1023dup8