Varaico: Literature-Extracted Genetic Variants

Gene:PITX2
Variant:p.E108A

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
1 paper
NM_000325.6
p.E108A
c.323A>C
Surrounding Variants
1 paper
NM_001204399.1
p.E55V
c.164A>T
1 paper
NM_153427.3
p.L51_E55delFs
c.153_163del11
3 papers
NM_153427.3
p.E55*
c.163G>T
1 paper
NM_000325.6
p.A109T
c.325G>A
2 papers
NM_153427.3
p.L54Q
c.161T>A
NM_000325.6
p.L107Q
c.320T>A
1 paper
NM_000325.6
p.A109V
c.326C>T
2 papers
NM_000325.6
p.L107L
c.319C>T
2 papers
NM_000325.6
p.E106D
c.318G>T
NM_001204399.1
p.E53D
c.159G>T
2 papers
NM_001204399.1
p.E53D
c.159G>C
NM_000325.6
p.E106D
c.318G>C
2 papers
NM_000325.6
p.E106delFs
c.317delT
1 paper
NM_000325.6
p.F111insFs
c.331_332insG
3 papers
NM_153427.3
p.F58L
c.172T>C
NM_001204399.1
p.F104L
c.310T>C
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