Varaico: Literature-Extracted Genetic Variants

Gene:PITX2
Variant:p.L39_P41delFs

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.L39_P41delFs
c.116_123del8
Surrounding Variants
1 paper
NM_000325.6
p.G42R
c.124G>C
1 paper
NM_000325.6
p.G42S
c.124G>A
1 paper
NM_000325.6
p.G42V
c.125G>T
4 papers
NM_000325.6
p.P41S
c.121C>T
1 paper
NM_000325.6
p.Q43*
c.127C>T
1 paper
NM_000325.6
p.V38_G42delFs
c.112_124del13
1 paper
NM_000325.6
p.M35_Q43del0
c.104_127del24
1 paper
NM_000325.6
p.A40G
c.119C>G
1 paper
NM_000325.6
p.A40T
c.118G>A
1 paper
NM_000325.6
p.R45W
c.133C>T
1 paper
NM_000325.6
p.V38delFs
c.114delA
1 paper
NM_000325.6
p.V38I
c.112G>A
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