Varaico: Literature-Extracted Genetic Variants

Gene:PITX1
Variant:p.E57*

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
2 papers
NM_002653.5
p.E57*
c.169G>T
Surrounding Variants
1 paper
NM_002653.5
p.E57Splc
c.170-1G>A
1 paper
NM_002653.5
p.E57Splc
c.170-2A>G
1 paper
NM_002653.5
p.P64T
c.190C>A
1 paper
NM_002653.5
p.E68K
c.202G>A
1 paper
NM_002653.5
p.G66_E68del3
c.196_203del9
1 paper
NM_002653.5
p.A72S
c.214G>T
1 paper
NM_002653.5
p.A72delFs
c.215delG
1 paper
NM_002653.5
p.P83delFs
c.249delT
1 paper
NM_002653.5
p.A84D
c.251C>A
1 paper
NM_002653.5
p.K88E
c.262A>G
1 paper
NM_002653.5
p.K88Q
c.262A>C
1 paper
NM_002653.5
p.R91W
c.271C>T
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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."