Varaico: Literature-Extracted Genetic Variants

Gene:KIF21B
Variant:p.S339Splc

KIF21B

160 papers

RefSeq Summary

This gene encodes a member of the kinesin superfamily. Kinesins are ATP-dependent microtubule-based motor proteins that are involved in the intracellular transport of membranous organelles. Single nuc...

Pfam Domains

Kinesinaa 14–370UCSCKinesin motor domain
KIF21A_2ndaa 415–504UCSCKIF21A-like domain
KIF21A_4thaa 606–791UCSCKIF21A-like domain
KIF21Aaa 906–1065UCSCKIF21A-like domain
WD40aa 1298–1334UCSCWD domain, G-beta repeat
WD40aa 1338–1375UCSCWD domain, G-beta repeat

Gene Aliases

HGNC Name

kinesin family member 21B

HGNC Alias Symbols

DKFZP434J212; KIAA0449

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001252102.2
p.S339Splc
c.1017-74C>A
Surrounding Variants
2 papers
NM_001252102.2
p.D351Y
c.1051G>T
2 papers
NM_001252102.2
p.F354S
c.1061T>C
1 paper
NM_001252102.2
p.A367D
c.1100C>A
1 paper
NM_001252102.2
p.S382N
c.1145G>A
1 paper
NM_001252102.2
p.E398K
c.1192G>A
2 papers
NM_001252102.2
p.L399L
c.1197G>T
1 paper
NM_001252102.2
p.A404V
c.1211C>T
1 paper
NM_001252102.2
p.A404A
c.1212G>A
1 paper
NM_001252102.2
p.S339Splc
c.1016+18C>A
1 paper
NM_001252102.2
p.L331F
c.991C>T
1 paper
NM_001252102.2
p.L327I
c.979C>A
1 paper
NM_001252102.2
p.H319H
c.957C>T
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