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.E31E

c.93A>G

Surrounding Variants

1 paper

NM_002014.4

p.E31*

c.91G>T

1 paper

NM_002014.4

p.V33M

c.97G>A

1 paper

NM_002014.4

p.Q29*

c.85C>T

1 paper

NM_002014.4

p.P27T

c.79C>A

1 paper

NM_002014.4

p.G22R

c.64G>A

1 paper

NM_002014.4

p.G22R

c.64G>C

1 paper

NM_002014.4

p.A16E

c.47C>A

2 papers

NM_002014.4

p.Q14*

c.40C>T

1 paper

NM_002014.4

p.A13V

c.38C>T

1 paper

NM_002014.4

p.S11G

c.31A>G

1 paper

NM_002014.4

p.M1T

c.2T>C

1 paper

NM_002014.4

p.M1insFs

c.2_3insT