Varaico: Literature-Extracted Genetic Variants

Gene:PITX2
Variant:p.R43W

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
3 papers
NM_001204399.1
p.R43W
c.127C>T
Surrounding Variants
1 paper
NM_000325.6
p.R96insFs
c.286_287insG
1 paper
NM_000325.6
p.R96P
c.287G>C
1 paper
NM_153426.3
p.K81_R89del0
c.242_265del24
1 paper
NM_000325.6
p.D80_Q95del0
c.240_284del45
1 paper
NM_153427.3
p.Q39_R41delFs
c.116_123del8
5 papers
NM_000325.6
p.T97A
c.289A>G
1 paper
NM_000325.6
p.R94R
c.282G>A
1 paper
NM_000325.6
p.T97I
c.290C>T
1 paper
NM_000325.6
p.R94Q
c.281G>A
1 paper
NM_001204399.1
p.H45Y
c.133C>T
1 paper
NM_001204397.2
p.R87W
c.259C>T
NM_000325.6
p.R94W
c.280C>T
1 paper
NM_001204397.2
p.H91D
c.271C>G
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