Varaico: Literature-Extracted Genetic Variants

FKBP4

129 papers

RefSeq Summary

The protein encoded by this gene is a member of the immunophilin protein family, which play a role in immunoregulation and basic cellular processes involving protein folding and trafficking. This enco...

Pfam Domains

FKBP_Caa 43–135UCSCFKBP-type peptidyl-prolyl cis-trans isomerase

FKBP_Caa 160–250UCSCFKBP-type peptidyl-prolyl cis-trans isomerase

TPR_1aa 320–352UCSCTetratricopeptide repeat

Gene Aliases

HGNC Name

FKBP prolyl isomerase 4

HGNC Alias Symbols

FKBP59; FKBP52

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002014.4

p.A173A

c.519A>C

Surrounding Variants

1 paper

NM_002014.4

p.Y177C

c.530A>G

1 paper

NM_002014.4

p.K181Q

c.541A>C

1 paper

NM_002014.4

p.F183C

c.548T>G

1 paper

NM_002014.4

p.R186Q

c.557G>A

1 paper

NM_002014.4

p.R189H

c.566G>A

1 paper

NM_002014.4

p.E191Q

c.571G>C

1 paper

NM_002014.4

p.G193S

c.577G>A

1 paper

NM_002014.4

p.E194K

c.580G>A

1 paper

NM_002014.4

p.E194*

c.580G>T

1 paper

NM_002014.4

p.N197K

c.591C>A

1 paper

NM_002014.4

p.N197K

c.591C>G

1 paper

NM_002014.4

p.A207G

c.620C>G