Varaico: Literature-Extracted Genetic Variants

Gene:PHOX2B
Variant:p.P206insFs

PHOX2B

358 papers

RefSeq Summary

The DNA-associated protein encoded by this gene is a member of the paired family of homeobox proteins localized to the nucleus. The protein functions as a transcription factor involved in the developm...

Pfam Domains

Homeodomainaa 99–155UCSCHomeodomain

Gene Aliases

HGNC Name

paired like homeobox 2B

HGNC Previous Symbol

PMX2B

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
4 papers
NM_003924.4
p.P206insFs
c.617_618insT
Surrounding Variants
1 paper
NM_003924.4
p.P206H
c.617C>A
2 papers
NM_003924.4
p.P206_S207insFs
c.618_619insT
6 papers
NM_003924.4
p.S207fs
c.619_620fs
12 papers
NM_003924.4
p.P206_S207insFs
c.618_619insC
19 papers
NM_003924.4
p.P206delFs
c.618delG
5 papers
NM_003924.4
p.N203_P206delFs
c.609_616del8
1 paper
NM_003924.4
p.S207fs
c.619_620fs
3 papers
NM_003924.4
p.P204fs
c.610_611fs
2 papers
NM_003924.4
p.N203insFs
c.608dupA
1 paper
NM_003924.4
p.N203fs
c.607_608fs
4 papers
NM_003924.4
p.P202_N203insFs
c.606_607insA
1 paper
NM_003924.4
p.A210V
c.629C>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."