Varaico: Literature-Extracted Genetic Variants

Gene:FKBP8
Variant:p.L293P

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.L293P
c.878T>C
Surrounding Variants
2 papers
NM_012181.5
p.A292S
c.874G>T
1 paper
NM_012181.5
p.R294R
c.882C>T
1 paper
NM_012181.5
p.H288Q
c.864C>G
1 paper
NM_012181.5
p.N306S
c.917A>G
1 paper
NM_012181.5
p.K274N
c.822G>T
1 paper
NM_012181.5
p.K274N
c.822G>C
1 paper
NM_012181.5
p.R312H
c.935G>A
2 papers
NM_012181.5
p.K315N
c.945G>T
2 papers
NM_012181.5
p.K315N
c.945G>C
1 paper
NM_012181.5
p.L269P
c.806T>C
1 paper
NM_012181.5
p.A241_S255del15
c.721_764del45
2 papers
NM_012181.5
p.A251G
c.752C>G
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