Varaico: Literature-Extracted Genetic Variants

Gene:PHOX2A
Variant:p.P47R

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.P47R
c.140C>G
Surrounding Variants
1 paper
NM_005169.4
p.P47L
c.140C>T
1 paper
NM_005169.4
p.P47fs
c.139_140fs
1 paper
NM_005169.4
p.A44A
c.132G>C
4 papers
NM_005169.4
p.A51A
c.153G>A
1 paper
NM_005169.4
p.L52L
c.156C>T
1 paper
NM_005169.4
p.P40S
c.118C>T
1 paper
NM_005169.4
p.G31R
c.91G>C
2 papers
NM_005169.4
p.H65D
c.193C>G
1 paper
NM_005169.4
p.S28R
c.84C>G
4 papers
NM_005169.4
p.A72V
c.215C>T
2 papers
NM_005169.4
p.V73Splc
c.217+1G>A
1 paper
NM_005169.4
p.V13M
c.37G>A
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