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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:FKBP3

Variant:p.Y198F

FKBP3

23 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

BTHBaa 6–77UCSCBasic tilted helix bundle domain

FKBP_Caa 121–221UCSCFKBP-type peptidyl-prolyl cis-trans isomerase

Gene Aliases

HGNC Name

FKBP prolyl isomerase 3

HGNC Alias Symbols

FKBP-25; FKBP25

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

2 papers

chr14:45118055 T>A

NM_002013.4

p.Y198F

c.593A>T

FKBP_C

exact variant not in gnomAD16 overlapping SVs

Surrounding Variants

1 paper

chr14:45116211 A>T

NM_002013.4

p.V221E

c.662T>A

FKBP_C

exact variant not in gnomAD16 overlapping SVs

1 paper

chr14:45120928 G>T

NM_002013.4

p.P161T

c.481C>A

FKBP_C

Exome: 0.0% (AC=0, hom=0)Genome: n/a16 overlapping SVs

1 paper

chr14:45121491 G>C

NM_002013.4

p.Q150E

c.448C>G

FKBP_C

exact variant not in gnomAD16 overlapping SVs

1 paper

chr14:45121518 C>T

NM_002013.4

p.D141N

c.421G>A

FKBP_C

Exome: 0.0% (AC=13, hom=0)Genome: 0.0% (AC=3, hom=0)16 overlapping SVs

1 paper

chr14:45121545 G>A

NM_002013.4

p.H132Y

c.394C>T

FKBP_C

Exome: 0.0% (AC=22, hom=0)Genome: 0.0% (AC=6, hom=0)16 overlapping SVs

1 paper

chr14:45121563 TGGGAAAG>T

NM_002013.4

p.N123_P125delFs

c.369_375del7

FKBP_C

exact variant not in gnomAD16 overlapping SVs

1 paper

chr14:45121572 GTT>N

NM_002013.4

p.N123fs

c.367_368fs

FKBP_C

exact variant not in gnomAD16 overlapping SVs

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