Varaico: Literature-Extracted Genetic Variants

Gene:PITX2
Variant:p.S230delFs

PITX2

303 papers

RefSeq Summary

This gene encodes a member of the RIEG/PITX homeobox family, which is in the bicoid class of homeodomain proteins. The encoded protein acts as a transcription factor and regulates procollagen lysyl hy...

Pfam Domains

Homeodomainaa 86–142UCSCHomeodomain
OARaa 275–293UCSCOAR motif

Gene Aliases

HGNC Name

paired like homeodomain 2

HGNC Previous Symbols

IRID2; IHG2; RIEG; RIEG1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_000325.6
p.S230delFs
c.690delC
Surrounding Variants
1 paper
NM_000325.6
p.S231S
c.693C>T
1 paper
NM_153427.3
p.S179N
c.536G>A
2 papers
NM_153427.3
p.M180fs
c.538_539fs
1 paper
NM_000325.6
p.M229V
c.685A>G
1 paper
NM_000325.6
p.S228N
c.683G>A
1 paper
NM_000325.6
p.V234M
c.700G>A
1 paper
NM_000325.6
p.N222_M227delFs
c.666_681del16
1 paper
NM_000325.6
p.S225L
c.674C>T
1 paper
NM_000325.6
p.A237insFs
c.709_710insC
1 paper
NM_000325.6
p.A237V
c.710C>T
1 paper
NM_000325.6
p.P221_I224insFs
c.663_670dup8
1 paper
NM_000325.6
p.I224T
c.671T>C
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