Varaico: Literature-Extracted Genetic Variants

Gene:KIF1B
Variant:p.N71S

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
1 paper
NM_001365951.3
p.N71S
c.212A>G
Surrounding Variants
5 papers
NM_001365951.3
p.N71Y
c.211A>T
1 paper
NM_001365951.3
p.R72H
c.215G>A
1 paper
NM_001365951.3
p.N75I
c.224A>T
1 paper
NM_001365951.3
p.N75K
c.225T>A
1 paper
NM_001365951.3
p.P65L
c.194C>T
1 paper
NM_001365951.3
p.G78S
c.232G>A
1 paper
NM_001365951.3
p.P62L
c.185C>T
1 paper
NM_001365951.3
p.L82I
c.244C>A
1 paper
NM_001365951.3
p.L83F
c.249A>C
1 paper
NM_001365951.3
p.L83F
c.249A>T
1 paper
NM_001365951.3
p.F94delFs
c.282delT
1 paper
NM_001365951.3
p.F94fs
c.280_281fs
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