Varaico: Literature-Extracted Genetic Variants

Gene:PITX1
Variant:p.Q211*

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.Q211*
c.631C>T
Surrounding Variants
1 paper
NM_002653.5
p.S210delFs
c.629delG
1 paper
NM_002653.5
p.S222delFs
c.666delG
2 papers
NM_002653.5
p.P226L
c.677C>T
1 paper
NM_002653.5
p.M229I
c.687G>T
1 paper
NM_002653.5
p.M229I
c.687G>C
1 paper
NM_002653.5
p.M229I
c.687G>A
1 paper
NM_002653.5
p.A190_A192delFs
c.568_574del7
1 paper
NM_002653.5
p.G232S
c.694G>A
1 paper
NM_002653.5
p.P231_A233del0
c.691_699del9
1 paper
NM_002653.5
p.P235L
c.704C>T
1 paper
NM_002653.5
p.Y181del1
c.541_542delGTA
1 paper
NM_002653.5
p.L242F
c.724C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."