Varaico: Literature-Extracted Genetic Variants

Gene:PHOX2A

PHOX2A

61 papers

RefSeq Summary

The protein encoded by this gene contains a paired-like homeodomain most similar to that of the Drosophila aristaless gene product. The encoded protein plays a central role in development of the auton...

Pfam Domains

Homeodomainaa 91–147UCSCHomeodomain

Gene Aliases

HGNC Name

paired like homeobox 2A

HGNC Previous Symbols

ARIX; FEOM2

Papers
RefSeq ID
Protein change
DNA change
1–12 of 58 variants
4 papers
NM_005169.4
p.A51A
c.153G>A
4 papers
NM_005169.4
p.A72V
c.215C>T
4 papers
NM_005169.4
p.W137C
c.411G>T
4 papers
NM_005169.4
p.W137C
c.411G>C
2 papers
NM_005169.4
p.H65D
c.193C>G
2 papers
NM_005169.4
p.V73Splc
c.217+1G>A
2 papers
NM_005169.4
p.Q135_V136Splc
c.406-1G>A
2 papers
NM_005169.4
p.G156V
c.467G>T
2 papers
NM_005169.4
p.G223R
c.667G>A
1 paper
NM_005169.4
p.M1K
c.2T>A
1 paper
NM_005169.4
p.D2insFs
c.4dupG
1 paper
NM_005169.4
p.Y3H
c.7T>C
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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."