Varaico: Literature-Extracted Genetic Variants

Gene:KIFBP
Variant:p.E354*

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.E354*
c.1060G>T
Surrounding Variants
1 paper
NM_015634.4
p.E355G
c.1064A>G
4 papers
NM_015634.4
p.K361insFs
c.1083dupA
1 paper
NM_015634.4
p.K361delFs
c.1083delA
1 paper
NM_015634.4
p.A346_R348Fs
c.1037_1044delinsTFs
1 paper
NM_015634.4
p.A362fs
c.1084_1085fs
1 paper
NM_015634.4
p.K340E
c.1018A>G
1 paper
NM_015634.4
p.D337N
c.1009G>A
2 papers
NM_015634.4
p.D372_A373insFs
c.1116_1117insA
1 paper
NM_015634.4
p.A373insFs
c.1117_1118insA
1 paper
NM_015634.4
p.A373insFs
c.1118_1119insA
1 paper
NM_015634.4
p.A376T
c.1126G>A
2 papers
NM_015634.4
p.S427G
c.1279A>G
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