Varaico: Literature-Extracted Genetic Variants

Gene:KIF7
Variant:p.L981insFs

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.L981insFs
c.2941dupC
Surrounding Variants
1 paper
NM_198525.3
p.E982*
c.2944G>T
5 papers
NM_198525.3
p.E987K
c.2959G>A
2 papers
NM_198525.3
p.R973*
c.2917C>T
7 papers
NM_198525.3
p.Q994R
c.2981A>G
1 paper
NM_198525.3
p.A966fs
c.2896_2897fs
7 papers
NM_198525.3
p.A966delFs
c.2896_2897delGC
2 papers
NM_198525.3
p.A966P
c.2896G>C
4 papers
NM_198525.3
p.A966fs
c.2896_2897fs
1 paper
NM_198525.3
p.L992_S996delFs
c.2975_2988del14
10 papers
NM_198525.3
p.Q1001*
c.3001C>T
1 paper
NM_198525.3
p.Q1002_I1003insFs
c.3006_3007insT
1 paper
NM_198525.3
p.R1004C
c.3010C>T
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."