Varaico: Literature-Extracted Genetic Variants

Gene:FKBP6
Variant:p.E282Q

FKBP6

109 papers

RefSeq Summary

The protein encoded by this gene is a cis-trans peptidyl-prolyl isomerase that may function in immunoregulation and basic cellular processes involving protein folding and trafficking. This gene is loc...

Pfam Domains

FKBP_Caa 48–140UCSCFKBP-type peptidyl-prolyl cis-trans isomerase

Gene Aliases

HGNC Name

FKBP prolyl isomerase family member 6 (inactive)

HGNC Alias Symbols

PPIase; FKBP36

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003602.5
p.E282Q
c.844G>C
Surrounding Variants
1 paper
NM_003602.5
p.K281N
c.843G>C
1 paper
NM_001135211.3
p.Q278*
c.832C>T
3 papers
NM_003602.5
p.R278*
c.832C>T
1 paper
NM_003602.5
p.V277A
c.830T>C
1 paper
NM_003602.5
p.H287N
c.859C>A
2 papers
NM_003602.5
p.L293P
c.878T>C
2 papers
NM_003602.5
p.S298Splc
c.893+4A>G
1 paper
NM_003602.5
p.A262T
c.784G>A
1 paper
NM_003602.5
p.G260E
c.779G>A
1 paper
NM_003602.5
p.L246F
c.738G>C
1 paper
NM_003602.5
p.L246F
c.738G>T
1 paper
NM_001362789.2
p.G197_K206delFs
c.589_616del28
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