Varaico: Literature-Extracted Genetic Variants

Gene:PITX2
Variant:p.K18*

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.K18*
c.52A>T
Surrounding Variants
1 paper
NM_000325.6
p.L10_T17insFs
c.30_51dup22
1 paper
NM_000325.6
p.A15P
c.43G>C
1 paper
NM_000325.6
p.S20_A21insFs
c.60_61insG
1 paper
NM_000325.6
p.A21D
c.62C>A
2 papers
NM_000325.6
p.A21A
c.63C>T
1 paper
NM_000325.6
p.R13Q
c.38G>A
1 paper
NM_000325.6
p.R13R
c.37C>A
1 paper
NM_000325.6
p.S23_S24del1
c.69_71delGAG
1 paper
NM_000325.6
p.A21_S24del4
c.61_71del12
1 paper
NM_000325.6
p.L10F
c.30G>T
2 papers
NM_000325.6
p.L10F
c.30G>C
1 paper
NM_000325.6
p.L10S
c.29T>C
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