Varaico: Literature-Extracted Genetic Variants

Gene:FKBP8
Variant:p.A251G

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
2 papers
NM_012181.5
p.A251G
c.752C>G
Surrounding Variants
1 paper
NM_012181.5
p.A241_S255del15
c.721_764del45
1 paper
NM_012181.5
p.A241V
c.722C>T
1 paper
NM_012181.5
p.R235W
c.703C>T
1 paper
NM_012181.5
p.Q234*
c.700C>T
1 paper
NM_012181.5
p.N230K
c.690C>G
1 paper
NM_012181.5
p.R226W
c.676C>T
1 paper
NM_012181.5
p.L221Q
c.662T>A
1 paper
NM_012181.5
p.L221L
c.661C>T
1 paper
NM_012181.5
p.T200I
c.599C>T
1 paper
NM_012181.5
p.H192H
c.576C>T
1 paper
NM_012181.5
p.P190delFs
c.569delG
1 paper
NM_012181.5
p.P191L
c.572C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."