Varaico: Literature-Extracted Genetic Variants

Gene:FKBP8
Variant:p.E6G

FKBP8

66 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. Unlike th...

Pfam Domains

FKBP_Caa 113–201UCSCFKBP-type peptidyl-prolyl cis-trans isomerase

Gene Aliases

HGNC Name

FKBP prolyl isomerase 8

HGNC Alias Symbols

FKBP38; FKBPr38

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_012181.5
p.E6G
c.17A>G
Surrounding Variants
1 paper
NM_012181.5
p.S3L
c.8C>T
1 paper
NM_012181.5
p.S11F
c.32C>T
1 paper
NM_012181.5
p.A12T
c.34G>A
1 paper
NM_012181.5
p.L14L
c.42G>A
1 paper
NM_012181.5
p.E41_E42del1
c.122_124delCCT
1 paper
NM_012181.5
p.E44E
c.132G>A
1 paper
NM_012181.5
p.E41_E45del0
c.123_134del12
1 paper
NM_012181.5
p.E46A
c.137A>C
1 paper
NM_012181.5
p.D48V
c.143A>T
2 papers
NM_012181.5
p.E56A
c.167A>C
1 paper
NM_012181.5
p.E67G
c.200A>G
1 paper
NM_012181.5
p.E67E
c.201G>A
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