Varaico: Literature-Extracted Genetic Variants

Gene:KIF7
Variant:p.R820*

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.R820*
c.2458C>T
Surrounding Variants
1 paper
NM_198525.3
p.R820Q
c.2459G>A
1 paper
NM_198525.3
p.R826W
c.2476C>T
7 papers
NM_198525.3
p.V828M
c.2482G>A
2 papers
NM_198525.3
p.R832W
c.2494C>T
1 paper
NM_198525.3
p.T807T
c.2421G>C
1 paper
NM_198525.3
p.T807M
c.2420C>T
1 paper
NM_198525.3
p.Q833R
c.2498A>G
12 papers
NM_198525.3
p.Q834R
c.2501A>G
1 paper
NM_198525.3
p.Q835*
c.2503C>T
1 paper
NM_198525.3
p.Q837*
c.2509C>T
1 paper
NM_198525.3
p.R843C
c.2527C>T
1 paper
NM_198525.3
p.E844K
c.2530G>A
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