Varaico: Literature-Extracted Genetic Variants

Gene:PITX2
Variant:p.L54Q

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
10 papers
NM_000325.6
p.L54Q
c.161T>A
Surrounding Variants
2 papers
NM_000325.6
p.L54R
c.161T>G
1 paper
NM_000325.6
p.L54P
c.161T>C
1 paper
NM_000325.6
p.L54V
c.160C>G
1 paper
NM_000325.6
p.L54M
c.160C>A
5 papers
NM_000325.6
p.E55*
c.163G>T
1 paper
NM_000325.6
p.E55V
c.164A>T
2 papers
NM_000325.6
p.K51_E55delFs
c.153_163del11
1 paper
NM_000325.6
p.R53W
c.157A>T
1 paper
NM_000325.6
p.R53ins1
c.157_158insGGT
2 papers
NM_000325.6
p.V56insFs
c.166dupG
2 papers
NM_000325.6
p.V56E
c.167T>A
1 paper
NM_000325.6
p.H52R
c.155A>G
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