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

7 papers

NM_021939.4

p.A424Fs

c.1271_1272delinsAFs

Surrounding Variants

6 papers

NM_021939.4

p.Q426insFs

c.1276dupC

1 paper

NM_021939.4

p.Q426delFs

c.1276delC

3 papers

NM_021939.4

p.A424fs

c.1270_1271fs

1 paper

NM_021939.4

p.Q426fs

c.1276_1277fs

1 paper

NM_021939.4

p.E427G

c.1280A>G

1 paper

NM_021939.4

p.T429I

c.1286C>T

1 paper

NM_021939.4

p.S419Splc

c.1257-2A>G

1 paper

NM_021939.4

p.L430L

c.1290C>T

1 paper

NM_021939.4

p.G431V

c.1292G>T

5 papers

NM_021939.4

p.I436T

c.1307T>C

1 paper

NM_021939.4

p.G438D

c.1313G>A

1 paper

NM_021939.4

p.T441_G442insC

c.1321_1325ins3