Varaico: Literature-Extracted Genetic Variants

Gene:KIF7
Variant:p.T846M

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.T846M
c.2537C>T
Surrounding Variants
1 paper
NM_198525.3
p.E844K
c.2530G>A
1 paper
NM_198525.3
p.Q833_R843del11
c.2497_2528del33
1 paper
NM_198525.3
p.R843C
c.2527C>T
1 paper
NM_198525.3
p.R850L
c.2549G>T
1 paper
NM_198525.3
p.R850Q
c.2549G>A
1 paper
NM_198525.3
p.R851C
c.2551C>T
1 paper
NM_198525.3
p.R851H
c.2552G>A
1 paper
NM_198525.3
p.Q837*
c.2509C>T
1 paper
NM_198525.3
p.Q835*
c.2503C>T
4 papers
NM_198525.3
p.A854_S857delFs
c.2560_2570del11
12 papers
NM_198525.3
p.Q834R
c.2501A>G
1 paper
NM_198525.3
p.Q833R
c.2498A>G
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