Varaico: Literature-Extracted Genetic Variants

Gene:KIF1B
Variant:p.S1435Splc

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.S1435Splc
c.4304+1G>A
Surrounding Variants
1 paper
NM_001365951.3
p.P1433P
c.4299A>G
1 paper
NM_001365951.3
p.G1428S
c.4282G>A
1 paper
NM_015074.3
p.V1358A
c.4073T>C
1 paper
NM_001365951.3
p.S1386L
c.4157C>T
1 paper
NM_001365951.3
p.R1373Q
c.4118G>A
1 paper
NM_001365951.3
p.R1352Splc
c.4056-50C>T
2 papers
NM_001365951.3
p.R1462R
c.4384A>C
4 papers
NM_001365951.3
p.W1481*
c.4442G>A
1 paper
NM_001365951.3
p.D1486D
c.4458C>T
1 paper
NM_015074.3
p.E1460K
c.4378G>A
1 paper
NM_001365951.3
p.S1525Y
c.4574C>A
1 paper
NM_001365951.3
p.S1525S
c.4575C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."