Varaico: Literature-Extracted Genetic Variants

Gene:PANX2
Variant:p.L555L

PANX2

59 papers

RefSeq Summary

The protein encoded by this gene belongs to the innexin family. Innexin family members are the structural components of gap junctions. This protein and pannexin 1 are abundantly expressed in central n...

Pfam Domains

Innexinaa 49–258UCSCInnexin

Gene Aliases

HGNC Name

pannexin 2

HGNC Alias Symbols

hPANX2; PX2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_052839.4
p.L555L
c.1665A>G
Surrounding Variants
1 paper
NM_052839.4
p.P561L
c.1682C>T
1 paper
NM_052839.4
p.P537_A538insA
c.1609_1613ins3
1 paper
NM_052839.4
p.V517M
c.1549G>A
2 papers
NM_052839.4
p.P505P
c.1515T>C
1 paper
NM_052839.4
p.G494fs
c.1480_1481fs
1 paper
NM_052839.4
p.P493insFs
c.1479dupC
1 paper
NM_052839.4
p.T469S
c.1405A>T
1 paper
NM_052839.4
p.R464H
c.1391G>A
1 paper
NM_052839.4
p.R464S
c.1390C>A
1 paper
NM_052839.4
p.A448V
c.1343C>T
1 paper
NM_052839.4
p.K428N
c.1284G>C
1 paper
NM_052839.4
p.K428N
c.1284G>T
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