Varaico: Literature-Extracted Genetic Variants

Gene:KIF7
Variant:p.R21*

KIF7

250 papers

RefSeq Summary

This gene encodes a cilia-associated protein belonging to the kinesin family. This protein plays a role in the sonic hedgehog (SHH) signaling pathway through the regulation of GLI transcription factor...

Pfam Domains

Kinesinaa 21–349UCSCKinesin motor domain
KIF21A_4thaa 682–867UCSCKIF21A-like domain

Gene Aliases

HGNC Name

kinesin family member 7

HGNC Alias Symbol

JBTS12

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
7 papers
NM_198525.3
p.R21*
c.61C>T
Surrounding Variants
4 papers
NM_198525.3
p.R23*
c.67C>T
1 paper
NM_198525.3
p.V18F
c.52G>T
1 paper
NM_198525.3
p.R17W
c.49C>T
1 paper
NM_198525.3
p.H34delFs
c.102delA
1 paper
NM_198525.3
p.Q6H
c.18G>C
1 paper
NM_198525.3
p.A5insFs
c.13dupG
1 paper
NM_198525.3
p.A5P
c.13G>C
1 paper
NM_198525.3
p.E4_A5insFs
c.12_13ins16
2 papers
NM_198525.3
p.E4insFs
c.10_11insCT
2 papers
NM_198525.3
p.R51C
c.151C>T
1 paper
NM_198525.3
p.R51S
c.151C>A
1 paper
NM_198525.3
p.R51H
c.152G>A
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