Varaico: Literature-Extracted Genetic Variants

Gene:PITX2
Variant:p.G75R

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
2 papers
NM_001204397.2
p.G75R
c.223G>C
NM_000325.6
p.G82R
c.244G>C
Surrounding Variants
1 paper
NM_000325.6
p.D80_V81insFs
c.240_243dup4
1 paper
NM_000325.6
p.G82A
c.245G>C
1 paper
NM_000325.6
p.D71_V81del11
c.211_242del33
1 paper
NM_000325.6
p.G82G
c.246C>A
1 paper
NM_000325.6
p.V81delFs
c.243delC
4 papers
NM_153426.3
p.A76S
c.226G>T
NM_000325.6
p.A83S
c.247G>T
1 paper
NM_000325.6
p.A83P
c.247G>C
2 papers
NM_000325.6
p.V81M
c.241G>A
NM_001204397.2
p.V74M
c.220G>A
2 papers
NM_153427.3
p.A30delFs
c.90delG
2 papers
NM_153427.3
p.E31fs
c.91_92fs
1 paper
NM_000325.6
p.E84V
c.251A>T
1 paper
NM_000325.6
p.D85H
c.253G>C
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