Varaico: Literature-Extracted Genetic Variants

Gene:PHOX2A
Variant:p.S202_P203insFs

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.S202_P203insFs
c.606_607insA
Surrounding Variants
1 paper
NM_005169.4
p.P203R
c.608C>G
1 paper
NM_005169.4
p.A190_G199del0
c.569_595del27
1 paper
NM_005169.4
p.S206insFs
c.617_618insT
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.S191P
c.571T>C
1 paper
NM_005169.4
p.A190T
c.568G>A
2 papers
NM_005169.4
p.G223R
c.667G>A
1 paper
NM_005169.4
p.P224P
c.672A>G
1 paper
NM_005169.4
p.A230A
c.690A>G
1 paper
NM_005169.4
p.L231L
c.693G>T
1 paper
NM_005169.4
p.K155_K164del0
c.465_491del27
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