Varaico: Literature-Extracted Genetic Variants

Gene:KIF1B
Variant:p.M1247I

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.M1247I
c.3741G>A
Surrounding Variants
1 paper
NM_001365951.3
p.M1247I
c.3741G>C
1 paper
NM_001365951.3
p.M1247I
c.3741G>T
1 paper
NM_001365951.3
p.E1257K
c.3769G>A
1 paper
NM_001365951.3
p.T1237M
c.3710C>T
4 papers
NM_015074.3
p.P1217S
c.3649C>T
1 paper
NM_001365951.3
p.Y1267Y
c.3801T>C
1 paper
NM_001365951.3
p.V1272I
c.3814G>A
1 paper
NM_001365951.3
p.T1275R
c.3824C>G
1 paper
NM_001365951.3
p.G1282W
c.3844G>T
7 papers
NM_001365951.3
p.R1217C
c.3649C>T
1 paper
NM_001365951.3
p.P1212L
c.3635C>T
1 paper
NM_001365951.3
p.G1317insFs
c.3949_3950insG
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