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

2 papers

NM_002014.4

p.E131_V132Splc

c.394-1G>A

Surrounding Variants

1 paper

NM_002014.4

p.E131_V132Splc

c.394-2A>G

1 paper

NM_002014.4

p.K138R

c.413A>G

1 paper

NM_002014.4

p.T143A

c.427A>G

2 papers

NM_002014.4

p.Q155H

c.465G>C

2 papers

NM_002014.4

p.Q155H

c.465G>T

1 paper

NM_002014.4

p.R157H

c.470G>A

1 paper

NM_002014.4

p.Y161D

c.481T>G

1 paper

NM_002014.4

p.Y161S

c.482A>C

1 paper

NM_002014.4

p.Y161C

c.482A>G

1 paper

NM_002014.4

p.G167S

c.499G>A

1 paper

NM_002014.4

p.A168A

c.504T>A

1 paper

NM_002014.4

p.A173A

c.519A>C