Varaico: Literature-Extracted Genetic Variants

Gene:KIF7
Variant:p.R51S

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
1 paper
NM_198525.3
p.R51S
c.151C>A
Surrounding Variants
2 papers
NM_198525.3
p.R51C
c.151C>T
1 paper
NM_198525.3
p.R51H
c.152G>A
3 papers
NM_198525.3
p.D52N
c.154G>A
1 paper
NM_198525.3
p.G50_R51delFs
c.150_153del4
2 papers
NM_198525.3
p.R53*
c.157C>T
2 papers
NM_198525.3
p.H54Y
c.160C>T
2 papers
NM_198525.3
p.V59M
c.175G>A
1 paper
NM_198525.3
p.A62G
c.185C>G
1 paper
NM_198525.3
p.A62D
c.185C>A
2 papers
NM_198525.3
p.A65A
c.195G>C
1 paper
NM_198525.3
p.H34delFs
c.102delA
1 paper
NM_198525.3
p.Q67L
c.200A>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."