Varaico: Literature-Extracted Genetic Variants

Gene:KIF7
Variant:p.R746L

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.R746L
c.2237G>T
Surrounding Variants
1 paper
NM_198525.3
p.Q743*
c.2227C>T
1 paper
NM_198525.3
p.R739H
c.2216G>A
8 papers
NM_198525.3
p.E758*
c.2272G>T
3 papers
NM_198525.3
p.E758K
c.2272G>A
5 papers
NM_198525.3
p.L759P
c.2276T>C
1 paper
NM_198525.3
p.Q763fs
c.2287_2288fs
1 paper
NM_198525.3
p.Q775*
c.2323C>T
5 papers
NM_198525.3
p.E779*
c.2335G>T
1 paper
NM_198525.3
p.E779E
c.2337G>A
1 paper
NM_198525.3
p.R788delFs
c.2364delC
3 papers
NM_198525.3
p.R789fs
c.2365_2366fs
1 paper
NM_198525.3
p.R729H
c.2186G>A
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