Varaico: Literature-Extracted Genetic Variants

Gene:KIF1B
Variant:p.R1571Q

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_015074.3
p.R1571Q
c.4712G>A
Surrounding Variants
1 paper
NM_015074.3
p.P1573S
c.4717C>T
1 paper
NM_001365951.3
p.I1615T
c.4844T>C
1 paper
NM_001365951.3
p.P1631T
c.4891C>A
1 paper
NM_001365951.3
p.T1634A
c.4900A>G
1 paper
NM_001365951.3
p.K1608_L1609Splc
c.4825-41T>C
1 paper
NM_001365951.3
p.V1639V
c.4917A>G
1 paper
NM_001365951.3
p.G1602D
c.4805G>A
1 paper
NM_001365951.3
p.V1600M
c.4798G>A
2 papers
NM_001365951.3
p.R1656W
c.4966C>T
NM_015074.3
p.R1610W
c.4828C>T
1 paper
NM_001365951.3
p.P1671S
c.5011C>T
2 papers
NM_015074.3
p.E1628K
c.4882G>A
1 paper
NM_001365951.3
p.R1680*
c.5038C>T
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