Varaico: Literature-Extracted Genetic Variants

Gene:PITX1
Variant:p.E44G

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.E44G
c.131A>G
Surrounding Variants
1 paper
NM_002653.5
p.N45N
c.135C>T
1 paper
NM_002653.5
p.D38_P42delFs
c.112_124del13
1 paper
NM_002653.5
p.E57*
c.169G>T
1 paper
NM_002653.5
p.E57Splc
c.169+1G>C
1 paper
NM_002653.5
p.P29delFs
c.87delG
1 paper
NM_002653.5
p.A30fs
c.88_89fs
1 paper
NM_002653.5
p.D26E
c.78C>G
1 paper
NM_002653.5
p.D26E
c.78C>A
1 paper
NM_002653.5
p.P24delFs
c.71delG
1 paper
NM_002653.5
p.P22_P23del2
c.64_68del6
2 papers
NM_002653.5
p.P24L
c.71C>T
1 paper
NM_002653.5
p.P21_P23ins1
c.63_68dup6
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