Varaico: Literature-Extracted Genetic Variants

Gene:PITX1
Variant:p.A256fs

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
3 papers
NM_002653.5
p.A256fs
c.766_767fs
Surrounding Variants
1 paper
NM_002653.5
p.A256delFs
c.768delG
1 paper
NM_002653.5
p.S258*
c.773C>A
1 paper
NM_002653.5
p.G260G
c.780C>G
3 papers
NM_002653.5
p.G265C
c.793G>T
4 papers
NM_002653.5
p.S255_P267delFs
c.765_799del35
1 paper
NM_002653.5
p.L242F
c.724C>T
1 paper
NM_002653.5
p.P270H
c.809C>A
1 paper
NM_002653.5
p.Y271C
c.812A>G
1 paper
NM_002653.5
p.P235L
c.704C>T
1 paper
NM_002653.5
p.P231_A233del0
c.691_699del9
1 paper
NM_002653.5
p.G232S
c.694G>A
1 paper
NM_002653.5
p.M229I
c.687G>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."