Varaico: Literature-Extracted Genetic Variants

Gene:KIF22
Variant:p.R518H

KIF22

94 papers

RefSeq Summary

The protein encoded by this gene is a member of the kinesin-like protein family. The family members are microtubule-dependent molecular motors that transport organelles within cells and move chromosom...

Pfam Domains

Kinesinaa 49–368UCSCKinesin motor domain
HHH_3aa 595–650UCSCHelix-hairpin-helix motif

Gene Aliases

HGNC Name

kinesin family member 22

HGNC Previous Symbol

KNSL4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_007317.3
p.R518H
c.1553G>A
Surrounding Variants
1 paper
NM_007317.3
p.P509A
c.1525C>G
1 paper
NM_007317.3
p.V530L
c.1588G>T
1 paper
NM_007317.3
p.E505A
c.1514A>C
2 papers
NM_007317.3
p.E502*
c.1504G>T
2 papers
NM_007317.3
p.A501insFs
c.1502_1503insG
1 paper
NM_007317.3
p.Q540K
c.1618C>A
1 paper
NM_007317.3
p.R556W
c.1666C>T
1 paper
NM_007317.3
p.K559delFs
c.1675delA
1 paper
NM_007317.3
p.K559_L560Splc
c.1677+124A>T
2 papers
NM_007317.3
p.V475G
c.1424T>G
1 paper
NM_007317.3
p.R468W
c.1402C>T
2 papers
NM_007317.3
p.T463A
c.1387A>G
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