Varaico: Literature-Extracted Genetic Variants

Gene:PITX1
Variant:p.T129I

PITX1

112 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 are involved in organ development and left-right asymmetry. Th...

Pfam Domains

Homeodomainaa 90–146UCSCHomeodomain
OARaa 276–294UCSCOAR motif

Gene Aliases

HGNC Name

paired like homeodomain 1

HGNC Previous Symbol

BFT

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002653.5
p.T129I
c.386C>T
Surrounding Variants
1 paper
NM_002653.5
p.E130*
c.388G>T
13 papers
NM_002653.5
p.E130K
c.388G>A
1 paper
NM_002653.5
p.R132G
c.394C>G
1 paper
NM_002653.5
p.W125L
c.374G>T
1 paper
NM_002653.5
p.R134_V135insFs
c.402_403insC
1 paper
NM_002653.5
p.E120K
c.358G>A
1 paper
NM_002653.5
p.N111S
c.332A>G
1 paper
NM_002653.5
p.R110K
c.329G>A
1 paper
NM_002653.5
p.E105G
c.314A>G
1 paper
NM_002653.5
p.S98insFs
c.293_294insC
1 paper
NM_002653.5
p.S98delFs
c.292delT
1 paper
NM_002653.5
p.S98fs
c.292_293fs
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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."