Varaico: Literature-Extracted Genetic Variants

Gene:PHOX2A
Variant:p.R141G

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.R141G
c.421C>G
Surrounding Variants
1 paper
NM_005169.4
p.R141H
c.422G>A
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.Q135_V136Splc
c.406-1G>A
1 paper
NM_005169.4
p.A152S
c.454G>T
1 paper
NM_005169.4
p.K155*
c.463A>T
2 papers
NM_005169.4
p.G156V
c.467G>T
1 paper
NM_005169.4
p.K155_A158del0
c.465_473del9
1 paper
NM_005169.4
p.K155_K164del0
c.465_491del27
1 paper
NM_005169.4
p.A190T
c.568G>A
1 paper
NM_005169.4
p.S191P
c.571T>C
1 paper
NM_005169.4
p.A190_G199del0
c.569_595del27
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