Varaico: Literature-Extracted Genetic Variants

Gene:KIF1B
Variant:p.K707R

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.K707R
c.2120A>G
Surrounding Variants
1 paper
NM_015074.3
p.R706Q
c.2117G>A
1 paper
NM_001365951.3
p.R752W
c.2254C>T
1 paper
NM_001365951.3
p.S756Y
c.2267C>A
1 paper
NM_001365951.3
p.H757Y
c.2269C>T
1 paper
NM_001365951.3
p.H757R
c.2270A>G
1 paper
NM_001365951.3
p.A747S
c.2239G>T
1 paper
NM_001365951.3
p.L762S
c.2285T>C
1 paper
NM_001365951.3
p.Q741_H742delFs
c.2223_2226del4
2 papers
NM_001365951.3
p.T740I
c.2219C>T
2 papers
NM_001365951.3
p.P738L
c.2213C>T
1 paper
NM_001365951.3
p.G768D
c.2303G>A
1 paper
NM_001365951.3
p.A778T
c.2332G>A
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