Varaico: Literature-Extracted Genetic Variants

Gene:PITX2
Variant:p.N130K

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.N130K
c.390C>A
Surrounding Variants
1 paper
NM_000325.6
p.N130K
c.390C>G
1 paper
NM_000325.6
p.N130S
c.389A>G
1 paper
NM_153427.3
p.L78P
c.233T>C
2 papers
NM_000325.6
p.T129delFs
c.387delG
1 paper
NM_000325.6
p.T129T
c.387C>A
5 papers
NM_000325.6
p.T129S
c.386C>G
5 papers
NM_000325.6
p.T129S
c.385A>T
1 paper
NM_000325.6
p.T129P
c.385A>C
1 paper
NM_000325.6
p.W128*
c.383G>A
1 paper
NM_000325.6
p.A126_V127del0
c.376_381del6
1 paper
NM_000325.6
p.V127E
c.380T>A
1 paper
NM_001204399.1
p.V74M
c.220G>A
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