Varaico: Literature-Extracted Genetic Variants

Gene:PITX2
Variant:p.S49F

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.S49F
c.146C>T
Surrounding Variants
1 paper
NM_000325.6
p.S49Y
c.146C>A
1 paper
NM_000325.6
p.S50P
c.148T>C
1 paper
NM_000325.6
p.L47L
c.141G>A
1 paper
NM_000325.6
p.P44_S50ins2
c.130_150dup21
1 paper
NM_000325.6
p.L47L
c.139C>T
1 paper
NM_000325.6
p.H52fs
c.154_155fs
1 paper
NM_000325.6
p.H52R
c.155A>G
1 paper
NM_000325.6
p.H52P
c.155A>C
1 paper
NM_000325.6
p.R53W
c.157A>T
1 paper
NM_000325.6
p.R53ins1
c.157_158insGGT
1 paper
NM_000325.6
p.R45W
c.133C>T
1 paper
NM_000325.6
p.L54V
c.160C>G
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