Varaico: Literature-Extracted Genetic Variants

Gene:KIFBP
Variant:p.R202delFs

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.R202delFs
c.604_605delAG
Surrounding Variants
1 paper
NM_015634.4
p.R202fs
c.604_605fs
11 papers
NM_015634.4
p.S200*
c.599C>A
11 papers
NM_015634.4
p.S200*
c.599C>G
1 paper
NM_015634.4
p.E198K
c.592G>A
2 papers
NM_015634.4
p.P189S
c.565C>T
1 paper
NM_015634.4
p.T234K
c.701C>A
1 paper
NM_015634.4
p.E240K
c.718G>A
1 paper
NM_015634.4
p.E240*
c.718G>T
1 paper
NM_015634.4
p.E240V
c.719A>T
2 papers
NM_015634.4
p.P246S
c.736C>T
1 paper
NM_015634.4
p.Y260H
c.778T>C
1 paper
NM_015634.4
p.N262S
c.785A>G
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