Varaico: Literature-Extracted Genetic Variants

Gene:PITX2
Variant:p.N2N

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.N2N
c.6C>T
Surrounding Variants
1 paper
NM_000325.6
p.N2insFs
c.4dupA
1 paper
NM_000325.6
p.C3Y
c.8G>A
2 papers
NM_000325.6
p.M1I
c.3G>T
2 papers
NM_000325.6
p.M1insFs
c.2dupT
1 paper
NM_000325.6
p.M1_N2insFs
c.3_4insA
1 paper
NM_000325.6
p.M1I
c.3G>C
1 paper
NM_000325.6
p.C3ins1
c.8_9insGTT
1 paper
NM_000325.6
p.M1R
c.2T>G
2 papers
NM_000325.6
p.M1T
c.2T>C
1 paper
NM_000325.6
p.M1K
c.2T>A
2 papers
NM_000325.6
p.M1V
c.1A>G
1 paper
NM_000325.6
p.G6R
c.16G>C
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