Varaico: Literature-Extracted Genetic Variants

Gene:PITX2
Variant:p.P64L

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
6 papers
NM_153427.3
p.P64L
c.191C>T
NM_000325.6
p.P117L
c.350C>T
Surrounding Variants
4 papers
NM_001204399.1
p.P64R
c.191C>G
NM_153426.3
p.P110R
c.329C>G
NM_153427.3
p.P117R
c.350C>G
4 papers
NM_000325.6
p.P117S
c.349C>T
2 papers
NM_153427.3
p.P64A
c.190C>G
1 paper
NM_000325.6
p.D118insFs
c.353_354ins4
2 papers
NM_153427.3
p.M66fs
c.196_197fs
1 paper
NM_000325.6
p.D118delFs
c.354delG
5 papers
NM_000325.6
p.M119T
c.356T>C
2 papers
NM_000325.6
p.R115L
c.344G>T
9 papers
NM_153427.3
p.R62H
c.185G>A
NM_000325.6
p.R115H
c.344G>A
NM_153426.3
p.R108H
c.323G>A
2 papers
NM_000325.6
p.M119delFs
c.356delA
1 paper
NM_000325.6
p.R115G
c.343C>G
1 paper
NM_153427.3
p.R62fs
c.184_185fs
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