Varaico: Literature-Extracted Genetic Variants

Gene:KIF7
Variant:p.Q994R

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.Q994R
c.2981A>G
Surrounding Variants
1 paper
NM_198525.3
p.L992_S996delFs
c.2975_2988del14
10 papers
NM_198525.3
p.Q1001*
c.3001C>T
5 papers
NM_198525.3
p.E987K
c.2959G>A
1 paper
NM_198525.3
p.Q1002_I1003insFs
c.3006_3007insT
1 paper
NM_198525.3
p.R1004C
c.3010C>T
1 paper
NM_198525.3
p.R1004H
c.3011G>A
1 paper
NM_198525.3
p.R1004R
c.3012C>T
3 papers
NM_198525.3
p.G1005R
c.3013G>C
3 papers
NM_198525.3
p.G1005R
c.3013G>A
1 paper
NM_198525.3
p.E982*
c.2944G>T
1 paper
NM_198525.3
p.E1006fs
c.3016_3017fs
1 paper
NM_198525.3
p.L981insFs
c.2941dupC
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