Varaico: Literature-Extracted Genetic Variants

Gene:PHOX2A
Variant:p.Q255*

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
Selected Variant
1 paper
NM_005169.4
p.Q255*
c.763C>T
Surrounding Variants
1 paper
NM_005169.4
p.W254R
c.760T>C
1 paper
NM_005169.4
p.P256Q
c.767C>A
1 paper
NM_005169.4
p.S265P
c.793T>C
1 paper
NM_005169.4
p.G266E
c.797G>A
1 paper
NM_005169.4
p.L231L
c.693G>T
1 paper
NM_005169.4
p.A230A
c.690A>G
1 paper
NM_005169.4
p.P224P
c.672A>G
2 papers
NM_005169.4
p.G223R
c.667G>A
1 paper
NM_005169.4
p.S206_P207insFs
c.618_619insC
1 paper
NM_005169.4
p.S206delFs
c.618delG
1 paper
NM_005169.4
p.S206insFs
c.617_618insT
1 paper
NM_005169.4
p.P203R
c.608C>G
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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."