Varaico: Literature-Extracted Genetic Variants

Gene:FKBP7
Variant:p.I12T

FKBP7

17 papers

RefSeq Summary

The protein encoded by this gene belongs to the FKBP-type peptidyl-prolyl cis/trans isomerase (PPIase) family. Members of this family exhibit PPIase activity and function as molecular chaperones. A si...

Pfam Domains

FKBP_Caa 46–142UCSCFKBP-type peptidyl-prolyl cis-trans isomerase
EF-hand_5aa 194–216UCSCEF hand

Gene Aliases

HGNC Name

FKBP prolyl isomerase 7

HGNC Alias Symbol

FKBP23

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_181342.3
p.I12T
c.35T>C
Surrounding Variants
1 paper
NM_181342.3
p.F14L
c.40T>C
1 paper
NM_181342.3
p.F14L
c.42C>G
1 paper
NM_181342.3
p.F14L
c.42C>A
1 paper
NM_181342.3
p.F7I
c.19T>A
1 paper
NM_181342.3
p.R25T
c.74G>C
1 paper
NM_181342.3
p.Q26fs
c.76_77fs
1 paper
NM_181342.3
p.K27N
c.81G>T
1 paper
NM_181342.3
p.K27N
c.81G>C
1 paper
NM_181342.3
p.Q26_K27delFs
c.77_80del4
1 paper
NM_181342.3
p.K28_E29delFs
c.83_86del4
1 paper
NM_181342.3
p.E34K
c.100G>A
1 paper
NM_181342.3
p.I37fs
c.109_110fs
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