Varaico: Literature-Extracted Genetic Variants

Gene:PITX1
Variant:p.E148G

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.E148G
c.443A>G
Surrounding Variants
1 paper
NM_002653.5
p.Q151K
c.451C>A
1 paper
NM_002653.5
p.R145H
c.434G>A
1 paper
NM_002653.5
p.L153Q
c.458T>A
1 paper
NM_002653.5
p.A142V
c.425C>T
1 paper
NM_002653.5
p.R140_R141del1
c.419_421delGCC
1 paper
NM_002653.5
p.R141P
c.422G>C
2 papers
NM_002653.5
p.C156insFs
c.467_468insT
2 papers
NM_002653.5
p.R140Q
c.419G>A
1 paper
NM_002653.5
p.K138N
c.414G>T
1 paper
NM_002653.5
p.K138N
c.414G>C
2 papers
NM_002653.5
p.K138Q
c.412A>C
2 papers
NM_002653.5
p.Y160C
c.479A>G
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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."