Varaico: Literature-Extracted Genetic Variants

Gene:PAX7
Variant:p.M1K

PAX7

192 papers

RefSeq Summary

This gene is a member of the paired box (PAX) family of transcription factors. Members of this gene family typically contain a paired box domain, an octapeptide, and a paired-type homeodomain. These g...

Pfam Domains

PAXaa 34–161UCSC'Paired box' domain
Homeodomainaa 218–274UCSCHomeodomain
Pax7aa 345–385UCSCPaired box protein 7

Gene Aliases

HGNC Name

paired box 7

HGNC Alias Symbol

Hup1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001135254.2
p.M1K
c.2T>A
Surrounding Variants
1 paper
NM_001135254.2
p.M1L
c.1A>C
1 paper
NM_001135254.2
p.M1V
c.1A>G
1 paper
NM_001135254.2
p.M1L
c.1A>T
1 paper
NM_001135254.2
p.M1_A2insFs
c.3_4insA
3 papers
NM_001135254.2
p.A3T
c.7G>A
1 paper
NM_001135254.2
p.A3insFs
c.8_9insCT
1 paper
NM_001135254.2
p.A3G
c.8C>G
1 paper
NM_001135254.2
p.P5H
c.14C>A
1 paper
NM_001135254.2
p.G6R
c.16G>C
1 paper
NM_001135254.2
p.T7M
c.20C>T
1 paper
NM_001135254.2
p.P9L
c.26C>T
1 paper
NM_001135254.2
p.P14L
c.41C>T
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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."