Varaico: Literature-Extracted Genetic Variants

Gene:KIF7
Variant:p.A73delFs

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.A73delFs
c.217delC
Surrounding Variants
1 paper
NM_198525.3
p.A73P
c.217G>C
1 paper
NM_198525.3
p.A73fs
c.217_218fs
3 papers
NM_198525.3
p.A73fs
c.217_218fs
1 paper
NM_198525.3
p.C74R
c.220T>C
1 paper
NM_198525.3
p.A69G
c.206C>G
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
1 paper
NM_198525.3
p.L79F
c.235C>T
3 papers
NM_198525.3
p.L78delFs
c.233_234delGA
1 paper
NM_198525.3
p.Q67L
c.200A>T
2 papers
NM_198525.3
p.A65A
c.195G>C
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