Varaico: Literature-Extracted Genetic Variants

Gene:KIF7
Variant:p.K913del1

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.K913del1
c.2737_2739delCTT
Surrounding Variants
1 paper
NM_198525.3
p.W914*
c.2741G>A
1 paper
NM_198525.3
p.W914*
c.2742G>A
2 papers
NM_198525.3
p.K913*
c.2737A>T
1 paper
NM_198525.3
p.Q911K
c.2731C>A
1 paper
NM_198525.3
p.Q917H
c.2751G>T
1 paper
NM_198525.3
p.Q917H
c.2751G>C
1 paper
NM_198525.3
p.E918Q
c.2752G>C
1 paper
NM_198525.3
p.V922_L923delFs
c.2765_2768del4
1 paper
NM_198525.3
p.R926Q
c.2777G>A
1 paper
NM_198525.3
p.R927W
c.2779C>T
1 paper
NM_198525.3
p.H937L
c.2810A>T
2 papers
NM_198525.3
p.R939W
c.2815C>T
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