Varaico: Literature-Extracted Genetic Variants

Gene:KIF7
Variant:p.S895R

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.S895R
c.2685C>G
Surrounding Variants
2 papers
NM_198525.3
p.G897A
c.2690G>C
3 papers
NM_198525.3
p.R892H
c.2675G>A
2 papers
NM_198525.3
p.A886A
c.2658A>C
1 paper
NM_198525.3
p.E883*
c.2647G>T
1 paper
NM_198525.3
p.T881insFs
c.2641_2642dupAC
1 paper
NM_198525.3
p.E867K
c.2599G>A
2 papers
NM_198525.3
p.K864_E865Splc
c.2593-2A>C
7 papers
NM_198525.3
p.K864_E865Splc
c.2593-3C>G
1 paper
NM_198525.3
p.Q911K
c.2731C>A
2 papers
NM_198525.3
p.K913*
c.2737A>T
1 paper
NM_198525.3
p.K913del1
c.2737_2739delCTT
1 paper
NM_198525.3
p.W914*
c.2741G>A
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