Varaico: Literature-Extracted Genetic Variants

Gene:PITX3

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
1–12 of 139 variants
26 papers
NM_005029.4
p.S13N
c.38G>A
18 papers
NM_005029.4
p.A214_G219delFs
c.640_656del17
17 papers
NM_005029.4
p.G217delFs
c.650delC
10 papers
NM_005029.4
p.A214fs
c.640_641fs
9 papers
NM_005029.4
p.A214_G219insFs
c.640_656dup17
9 papers
NM_005029.4
p.G219fs
c.655_656fs
8 papers
NM_005029.4
p.P191delFs
c.573delG
7 papers
NM_005029.4
p.I95I
c.285C>T
7 papers
NM_005029.4
p.P181delFs
c.542delG
6 papers
NM_005029.4
p.G139insFs
c.416_417insG
6 papers
NM_005029.4
p.A203delFs
c.608delG
6 papers
NM_005029.4
p.G220fs
c.658_659fs
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."