Varaico: Literature-Extracted Genetic Variants

Gene:PITX3
Variant:p.G217delFs

PITX3

155 papers

RefSeq Summary

This gene encodes a member of the RIEG/PITX homeobox family, which is in the bicoid class of homeodomain proteins. Members of this family act as transcription factors. This protein is involved in lens...

Pfam Domains

Homeodomainaa 63–119UCSCHomeodomain
OARaa 258–276UCSCOAR motif

Gene Aliases

HGNC Name

paired like homeodomain 3

HGNC Previous Symbol

ASMD

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
17 papers
NM_005029.4
p.G217delFs
c.650delC
Surrounding Variants
1 paper
NM_005029.4
p.G217fs
c.649_650fs
5 papers
NM_005029.4
p.G217fs
c.649_650fs
1 paper
NM_005029.4
p.G219insFs
c.656_657ins17
9 papers
NM_005029.4
p.A214_G219insFs
c.640_656dup17
1 paper
NM_005029.4
p.G219_G220insFs
c.657_658ins4
9 papers
NM_005029.4
p.G219fs
c.655_656fs
18 papers
NM_005029.4
p.A214_G219delFs
c.640_656del17
2 papers
NM_005029.4
p.G219insFs
c.656_657ins17
1 paper
NM_005029.4
p.G219ins1
c.656_657insGCC
6 papers
NM_005029.4
p.G220fs
c.658_659fs
1 paper
NM_005029.4
p.L215L
c.643C>T
2 papers
NM_005029.4
p.G220fs
c.658_659fs
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