Varaico: Literature-Extracted Genetic Variants

Gene:KIF7
Variant:p.R729H

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.R729H
c.2186G>A
Surrounding Variants
1 paper
NM_198525.3
p.V728delFs
c.2184delG
1 paper
NM_198525.3
p.E726Q
c.2176G>C
3 papers
NM_198525.3
p.E722*
c.2164G>T
1 paper
NM_198525.3
p.I717insFs
c.2149_2150insT
1 paper
NM_198525.3
p.R711W
c.2131C>T
1 paper
NM_198525.3
p.Q708_K709delFs
c.2123_2126del4
1 paper
NM_198525.3
p.Q705P
c.2114A>C
4 papers
NM_198525.3
p.R702Q
c.2105G>A
1 paper
NM_198525.3
p.T697I
c.2090C>T
1 paper
NM_198525.3
p.P694_P695Fs
c.2082_2083delinsAGAGAAGCCFs
1 paper
NM_198525.3
p.V693F
c.2077G>T
1 paper
NM_198525.3
p.Q692E
c.2074C>G
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