Varaico: Literature-Extracted Genetic Variants

Gene:PITX1
Variant:p.S98insFs

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.S98insFs
c.293_294insC
Surrounding Variants
1 paper
NM_002653.5
p.S98delFs
c.292delT
1 paper
NM_002653.5
p.S98fs
c.292_293fs
1 paper
NM_002653.5
p.T97fs
c.289_290fs
1 paper
NM_002653.5
p.R93G
c.277C>G
1 paper
NM_002653.5
p.R91P
c.272G>C
1 paper
NM_002653.5
p.E105G
c.314A>G
1 paper
NM_002653.5
p.R91W
c.271C>T
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.R110K
c.329G>A
1 paper
NM_002653.5
p.N111S
c.332A>G
1 paper
NM_002653.5
p.A84D
c.251C>A
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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."