Varaico: Literature-Extracted Genetic Variants

Gene:PITX2
Variant:p.S64R

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.S64R
c.192C>G
Surrounding Variants
1 paper
NM_000325.6
p.S64N
c.191G>A
1 paper
NM_000325.6
p.P65S
c.193C>T
1 paper
NM_000325.6
p.P65A
c.193C>G
1 paper
NM_000325.6
p.P65T
c.193C>A
1 paper
NM_000325.6
p.P65L
c.194C>T
1 paper
NM_000325.6
p.T62I
c.185C>T
1 paper
NM_000325.6
p.D61E
c.183C>G
1 paper
NM_000325.6
p.E66_A67Fs
c.198_201delinsTTTCTFs
1 paper
NM_000325.6
p.A68S
c.202G>T
1 paper
NM_000325.6
p.D61ins3
c.182_183ins9
1 paper
NM_000325.6
p.A68G
c.203C>G
1 paper
NM_000325.6
p.H57_I59del0
c.169_177del9
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