Varaico: Literature-Extracted Genetic Variants

Gene:KIF7
Variant:p.A69G

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.A69G
c.206C>G
Surrounding Variants
1 paper
NM_198525.3
p.Q67L
c.200A>T
2 papers
NM_198525.3
p.A65A
c.195G>C
1 paper
NM_198525.3
p.A73P
c.217G>C
3 papers
NM_198525.3
p.A73fs
c.217_218fs
7 papers
NM_198525.3
p.A73delFs
c.217delC
1 paper
NM_198525.3
p.A73fs
c.217_218fs
1 paper
NM_198525.3
p.C74R
c.220T>C
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.L78fs
c.232_233fs
2 papers
NM_198525.3
p.L78P
c.233T>C
1 paper
NM_198525.3
p.L78fs
c.232_233fs
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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."