Varaico: Literature-Extracted Genetic Variants

Gene:PITX2
Variant:p.H98L

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.H98L
c.293A>T
Surrounding Variants
1 paper
NM_000325.6
p.H98R
c.293A>G
1 paper
NM_000325.6
p.H98insFs
c.293_294insC
1 paper
NM_001204399.1
p.H45Y
c.133C>T
5 papers
NM_000325.6
p.H98Q
c.294C>G
1 paper
NM_001204397.2
p.H91D
c.271C>G
1 paper
NM_153427.3
p.H45insFs
c.134dupA
5 papers
NM_000325.6
p.H98Q
c.294C>A
1 paper
NM_153427.3
p.H45fs
c.133_134fs
1 paper
NM_000325.6
p.F99S
c.296T>C
1 paper
NM_000325.6
p.T97I
c.290C>T
2 papers
NM_153427.3
p.H45_F46delFs
c.134_137del4
5 papers
NM_000325.6
p.T97A
c.289A>G
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