Varaico: Literature-Extracted Genetic Variants

Gene:KIF1B
Variant:p.Y1183H

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.Y1183H
c.3547T>C
Surrounding Variants
1 paper
NM_001365951.3
p.D1182E
c.3546T>A
1 paper
NM_001365951.3
p.V1174M
c.3520G>A
1 paper
NM_001365951.3
p.H1196P
c.3587A>C
1 paper
NM_001365951.3
p.E1208*
c.3622G>T
1 paper
NM_001365951.3
p.S1211Splc
c.3632+65G>A
1 paper
NM_001365951.3
p.P1212L
c.3635C>T
7 papers
NM_001365951.3
p.R1217C
c.3649C>T
1 paper
NM_015074.3
p.N1125_I1126Splc
c.3375+1G>A
1 paper
NM_001365951.3
p.N1157S
c.3470A>G
1 paper
NM_001365951.3
p.F1150L
c.3450C>A
1 paper
NM_001365951.3
p.F1150L
c.3450C>G
1 paper
NM_001365951.3
p.F1150L
c.3448T>C
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