Varaico: Literature-Extracted Genetic Variants

Gene:PITX2
Variant:p.Q75P

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.Q75P
c.224A>C
Surrounding Variants
1 paper
NM_000325.6
p.Q75R
c.224A>G
3 papers
NM_153427.3
p.Q22*
c.64C>T
NM_000325.6
p.Q75*
c.223C>T
1 paper
NM_000325.6
p.Q74H
c.222G>T
1 paper
NM_000325.6
p.Q74H
c.222G>C
1 paper
NM_000325.6
p.G76A
c.227G>C
3 papers
NM_153426.3
p.Q67*
c.199C>T
NM_153427.3
p.Q21*
c.61C>T
1 paper
NM_000325.6
p.S73_Q74insFs
c.219_220insG
1 paper
NM_000325.6
p.K77Q
c.229A>C
1 paper
NM_000325.6
p.S73T
c.218G>C
1 paper
NM_000325.6
p.S73fs
c.217_218fs
1 paper
NM_000325.6
p.N78S
c.233A>G
1 paper
NM_000325.6
p.K72R
c.215A>G
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