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.D51V

c.152A>T

Surrounding Variants

1 paper

NM_002014.4

p.G50A

c.149G>C

1 paper

NM_002014.4

p.I49F

c.145A>T

1 paper

NM_002014.4

p.M48K

c.143T>A

3 papers

NM_002014.4

p.V55L

c.163G>C

1 paper

NM_002014.4

p.V55delFs

c.164delT

1 paper

NM_002014.4

p.V55A

c.164T>C

1 paper

NM_002014.4

p.Y57D

c.169T>G

1 paper

NM_002014.4

p.L61V

c.181C>G

1 paper

NM_002014.4

p.G64S

c.190G>A

2 papers

NM_002014.4

p.G64R

c.190G>C

2 papers

NM_002014.4

p.F67V

c.199T>G

1 paper

NM_002014.4

p.F67Y

c.200T>A