Varaico: Literature-Extracted Genetic Variants

Gene:PITX2
Variant:p.R13Q

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.R13Q
c.38G>A
Surrounding Variants
1 paper
NM_000325.6
p.R13R
c.37C>A
1 paper
NM_000325.6
p.A15P
c.43G>C
1 paper
NM_000325.6
p.L10F
c.30G>T
2 papers
NM_000325.6
p.L10F
c.30G>C
1 paper
NM_000325.6
p.L10S
c.29T>C
1 paper
NM_000325.6
p.L10*
c.29T>A
1 paper
NM_000325.6
p.L10L
c.28T>C
1 paper
NM_000325.6
p.L10M
c.28T>A
1 paper
NM_000325.6
p.H9R
c.26A>G
1 paper
NM_000325.6
p.L8delFs
c.23_24delAA
1 paper
NM_000325.6
p.P7_L8delFs
c.21_24del4
1 paper
NM_000325.6
p.K18*
c.52A>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."