Varaico: Literature-Extracted Genetic Variants

Gene:PHOX2B
Variant:p.E139V

PHOX2B

358 papers

RefSeq Summary

The DNA-associated protein encoded by this gene is a member of the paired family of homeobox proteins localized to the nucleus. The protein functions as a transcription factor involved in the developm...

Pfam Domains

Homeodomainaa 99–155UCSCHomeodomain

Gene Aliases

HGNC Name

paired like homeobox 2B

HGNC Previous Symbol

PMX2B

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003924.4
p.E139V
c.416A>T
Surrounding Variants
1 paper
NM_003924.4
p.E139G
c.416A>G
1 paper
NM_003924.4
p.E139A
c.416A>C
1 paper
NM_003924.4
p.E139Q
c.415G>C
2 papers
NM_003924.4
p.A140V
c.419C>T
14 papers
NM_003924.4
p.A140E
c.419C>A
1 paper
NM_003924.4
p.L131_L137delFs
c.393_411del19
17 papers
NM_003924.4
p.R141G
c.421C>G
2 papers
NM_003924.4
p.L131_L137del0
c.393_410del18
1 paper
NM_003924.4
p.R141P
c.422G>C
21 papers
NM_003924.4
p.R141Q
c.422G>A
1 paper
NM_003924.4
p.L137I
c.409C>A
1 paper
NM_003924.4
p.V142F
c.424G>T
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