Varaico: Literature-Extracted Genetic Variants

Gene:PITX2
Variant:p.R93R

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.R93R
c.279G>A
Surrounding Variants
1 paper
NM_000325.6
p.R93K
c.278G>A
NM_001204397.2
p.R86K
c.257G>A
1 paper
NM_001204397.2
p.R87W
c.259C>T
NM_000325.6
p.R94W
c.280C>T
1 paper
NM_000325.6
p.R94G
c.280C>G
1 paper
NM_000325.6
p.R93delFs
c.279delC
1 paper
NM_000325.6
p.R94Q
c.281G>A
1 paper
NM_000325.6
p.R94R
c.282G>A
1 paper
NM_153427.3
p.Q39_R41delFs
c.116_123del8
1 paper
NM_000325.6
p.Q92P
c.275A>C
1 paper
NM_153426.3
p.Q85insFs
c.253dupC
1 paper
NM_000325.6
p.Q92*
c.274C>T
2 papers
NM_153427.3
p.R38delFs
c.114delC
1 paper
NM_000325.6
p.K88_R91del0
c.262_273del12
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."