Varaico: Literature-Extracted Genetic Variants

Gene:KIF7
Variant:p.L1028M

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.L1028M
c.3082C>A
Surrounding Variants
1 paper
NM_198525.3
p.D1025Y
c.3073G>T
1 paper
NM_198525.3
p.D1025N
c.3073G>A
1 paper
NM_198525.3
p.G1031delFs
c.3092delC
1 paper
NM_198525.3
p.Q1020E
c.3058C>G
2 papers
NM_198525.3
p.S1016S
c.3048G>A
1 paper
NM_198525.3
p.E1006fs
c.3016_3017fs
3 papers
NM_198525.3
p.G1005R
c.3013G>C
3 papers
NM_198525.3
p.G1005R
c.3013G>A
1 paper
NM_198525.3
p.R1004R
c.3012C>T
1 paper
NM_198525.3
p.R1004H
c.3011G>A
1 paper
NM_198525.3
p.R1004C
c.3010C>T
1 paper
NM_198525.3
p.Q1002_I1003insFs
c.3006_3007insT
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