Varaico: Literature-Extracted Genetic Variants

Gene:KIF7
Variant:p.R1066C

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.R1066C
c.3196C>T
Surrounding Variants
2 papers
NM_198525.3
p.R1066H
c.3197G>A
8 papers
NM_198525.3
p.R1068W
c.3202C>T
1 paper
NM_198525.3
p.I1063Fs
c.3189delinsTTFs
1 paper
NM_198525.3
p.A1054_E1061del8
c.3160_3182del24
8 papers
NM_198525.3
p.N1060S
c.3179A>G
1 paper
NM_198525.3
p.Q1079*
c.3235C>T
1 paper
NM_198525.3
p.N1083fs
c.3247_3248fs
1 paper
NM_198525.3
p.N1083insFs
c.3248dupA
1 paper
NM_198525.3
p.Y1090Y
c.3270C>T
1 paper
NM_198525.3
p.S1094*
c.3281C>G
1 paper
NM_198525.3
p.S1094*
c.3281C>A
1 paper
NM_198525.3
p.E1037_E1038Splc
c.3112-2A>G
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