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.A267T

c.799G>A

Surrounding Variants

1 paper

NM_021939.4

p.D266D

c.798C>T

2 papers

NM_021939.4

p.Q269_P276insFs

c.807_828dup22

1 paper

NM_021939.4

p.P264L

c.791C>T

1 paper

NM_021939.4

p.L270fs

c.808_809fs

4 papers

NM_021939.4

p.E271_T272delFs

c.813_814delGA

1 paper

NM_021939.4

p.E271_C279del9

c.811_836del27

1 paper

NM_021939.4

p.E271fs

c.811_812fs

1 paper

NM_021939.4

p.L275fs

c.823_824fs

1 paper

NM_021939.4

p.L275fs

c.823_824fs

48 papers

NM_021939.4

p.P277insFs

c.831dupC

6 papers

NM_021939.4

p.P277delFs

c.831delC

1 paper

NM_021939.4

p.P277del1

c.829_831delCCC