Varaico: Literature-Extracted Genetic Variants

Gene:PITX2
Variant:p.K88E

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
18 papers
NM_000325.6
p.K88E
c.262A>G
Surrounding Variants
2 papers
NM_153427.3
p.K35*
c.103A>T
2 papers
NM_000325.6
p.K88R
c.263A>G
1 paper
NM_000325.6
p.K88N
c.264G>T
1 paper
NM_000325.6
p.K88_K89insFs
c.264_265insC
1 paper
NM_000325.6
p.K88N
c.264G>C
3 papers
NM_000325.6
p.S87P
c.259T>C
1 paper
NM_000325.6
p.P86P
c.258G>T
1 paper
NM_153427.3
p.K37fs
c.109_110fs
2 papers
NM_000325.6
p.P86S
c.256C>T
2 papers
NM_153427.3
p.K36delFs
c.108delC
1 paper
NM_000325.6
p.D85H
c.253G>C
1 paper
NM_000325.6
p.D85N
c.253G>A
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