Varaico: Literature-Extracted Genetic Variants

Gene:KIFBP
Variant:p.Y466insFs

KIFBP

83 papers

RefSeq Summary

This gene encodes a kinesin family member 1 binding protein that is characterized by two tetratrico peptide repeats. The encoded protein localizes to the mitochondria and may be involved in regulating...

Pfam Domains

KBP_Caa 247–614UCSCKIF-1 binding protein C terminal

Gene Aliases

HGNC Name

kinesin family binding protein

HGNC Previous Symbols

KIAA1279; KIF1BP

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_015634.4
p.Y466insFs
c.1397dupA
Surrounding Variants
5 papers
NM_015634.4
p.Y466*
c.1398T>A
5 papers
NM_015634.4
p.Y466*
c.1398T>G
1 paper
NM_015634.4
p.M484I
c.1452G>A
1 paper
NM_015634.4
p.M484I
c.1452G>C
1 paper
NM_015634.4
p.M484I
c.1452G>T
1 paper
NM_015634.4
p.R443R
c.1329G>A
1 paper
NM_015634.4
p.I506insFs
c.1516dupA
2 papers
NM_015634.4
p.S427G
c.1279A>G
1 paper
NM_015634.4
p.I506fs
c.1516_1517fs
1 paper
NM_015634.4
p.I506fs
c.1516_1517fs
1 paper
NM_015634.4
p.N507fs
c.1519_1520fs
1 paper
NM_015634.4
p.Y517_Q518insFs
c.1551_1552insA
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