Varaico: Literature-Extracted Genetic Variants

Gene:KIFBP
Variant:p.V550V

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
1 paper
NM_015634.4
p.V550V
c.1650T>C
Surrounding Variants
1 paper
NM_015634.4
p.R549*
c.1645C>T
1 paper
NM_015634.4
p.E565delFs
c.1694_1695delAG
1 paper
NM_015634.4
p.E565Q
c.1693G>C
1 paper
NM_015634.4
p.H575delFs
c.1723delC
1 paper
NM_015634.4
p.H575fs
c.1723_1724fs
1 paper
NM_015634.4
p.Q518insFs
c.1552_1553insA
1 paper
NM_015634.4
p.Y517_Q518insFs
c.1551_1552insA
1 paper
NM_015634.4
p.N507fs
c.1519_1520fs
1 paper
NM_015634.4
p.I506fs
c.1516_1517fs
1 paper
NM_015634.4
p.I506fs
c.1516_1517fs
2 papers
NM_015634.4
p.E596Q
c.1786G>C
1 paper
NM_015634.4
p.I506insFs
c.1516dupA
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."