Varaico: Literature-Extracted Genetic Variants

Gene:KIF1B
Variant:p.R18Q

KIF1B

510 papers

Pfam Domains

Kinesinaa 11–354UCSCKinesin motor domain
Kinesin_assocaa 358–555UCSCKinesin-associated
FHAaa 556–627UCSCFHA domain
FHAaa 556–627UCSCFHA domain
KIF1Baa 845–892UCSCKinesin protein 1B
KIF1Baa 845–892UCSCKinesin protein 1B

Gene Aliases

HGNC Name

kinesin family member 1B

HGNC Previous Symbols

CMT2A; CMT2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_001365951.3
p.R18Q
c.53G>A
Surrounding Variants
1 paper
NM_001365951.3
p.S17C
c.50C>G
1 paper
NM_001365951.3
p.T20A
c.58A>G
1 paper
NM_001365951.3
p.T20I
c.59C>T
1 paper
NM_001365951.3
p.S21C
c.61A>T
1 paper
NM_001365951.3
p.S21fs
c.61_62fs
1 paper
NM_001365951.3
p.S21N
c.62G>A
1 paper
NM_001365951.3
p.S24F
c.71C>T
1 paper
NM_001365951.3
p.K25Fs
c.73_74delinsAFs
1 paper
NM_001365951.3
p.I27delFs
c.79delA
1 paper
NM_001365951.3
p.A9G
c.26C>G
1 paper
NM_001365951.3
p.A9T
c.25G>A
1 paper
NM_001365951.3
p.V8L
c.22G>T
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