Varaico: Literature-Extracted Genetic Variants

Gene:KIF7
Variant:p.R939W

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
2 papers
NM_198525.3
p.R939W
c.2815C>T
Surrounding Variants
1 paper
NM_198525.3
p.H937L
c.2810A>T
1 paper
NM_198525.3
p.L943P
c.2828T>C
1 paper
NM_198525.3
p.M950insFs
c.2848_2849insC
1 paper
NM_198525.3
p.R927W
c.2779C>T
1 paper
NM_198525.3
p.R926Q
c.2777G>A
1 paper
NM_198525.3
p.V922_L923delFs
c.2765_2768del4
4 papers
NM_198525.3
p.S958I
c.2873G>T
1 paper
NM_198525.3
p.E918Q
c.2752G>C
1 paper
NM_198525.3
p.R960C
c.2878C>T
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.W914*
c.2742G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."