Varaico: Literature-Extracted Genetic Variants

Gene:KIFBP
Variant:p.N104S

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.N104S
c.311A>G
Surrounding Variants
2 papers
NM_015634.4
p.L101L
c.303C>T
1 paper
NM_015634.4
p.E115A
c.344A>C
4 papers
NM_015634.4
p.R90*
c.268C>T
1 paper
NM_015634.4
p.A88T
c.262G>A
1 paper
NM_015634.4
p.L122L
c.364C>T
5 papers
NM_015634.4
p.E84*
c.250G>T
1 paper
NM_015634.4
p.R126P
c.377G>C
6 papers
NM_015634.4
p.G66S
c.196G>A
1 paper
NM_015634.4
p.E62Q
c.184G>C
1 paper
NM_015634.4
p.K30*
c.88A>T
1 paper
NM_015634.4
p.K26K
c.78A>G
2 papers
NM_015634.4
p.E23G
c.68A>G
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