Varaico: Literature-Extracted Genetic Variants

Gene:KIF7
Variant:p.L1142M

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.L1142M
c.3424C>A
Surrounding Variants
1 paper
NM_198525.3
p.V1140G
c.3419T>G
1 paper
NM_198525.3
p.R1144L
c.3431G>T
1 paper
NM_198525.3
p.R1146C
c.3436C>T
1 paper
NM_198525.3
p.R1146S
c.3436C>A
1 paper
NM_198525.3
p.W1137R
c.3409T>C
1 paper
NM_198525.3
p.E1143_E1148delFs
c.3427_3443del17
1 paper
NM_198525.3
p.Q1132P
c.3395A>C
1 paper
NM_198525.3
p.E1129delFs
c.3386_3387delCT
1 paper
NM_198525.3
p.Q1156E
c.3466C>G
1 paper
NM_198525.3
p.Q1156R
c.3467A>G
1 paper
NM_198525.3
p.K1158del1
c.3472_3474delCTT
2 papers
NM_198525.3
p.S1122L
c.3365C>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."