Varaico: Literature-Extracted Genetic Variants

Gene:KIF7

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
1–12 of 350 variants
12 papers
NM_198525.3
p.Q834R
c.2501A>G
10 papers
NM_198525.3
p.Q1001*
c.3001C>T
9 papers
NM_198525.3
p.R1111*
c.3331C>T
8 papers
NM_198525.3
p.E758*
c.2272G>T
8 papers
NM_198525.3
p.N1060S
c.3179A>G
8 papers
NM_198525.3
p.R1068W
c.3202C>T
7 papers
NM_198525.3
p.R21*
c.61C>T
7 papers
NM_198525.3
p.A73delFs
c.217delC
7 papers
NM_198525.3
p.V828M
c.2482G>A
7 papers
NM_198525.3
p.K864_E865Splc
c.2593-3C>G
7 papers
NM_198525.3
p.A966delFs
c.2896_2897delGC
7 papers
NM_198525.3
p.Q994R
c.2981A>G
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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."