Varaico: Literature-Extracted Genetic Variants

Gene:PITX2
Variant:p.S101delFs

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
2 papers
NM_000325.6
p.S101delFs
c.301_302delCT
Surrounding Variants
5 papers
NM_000325.6
p.Q102*
c.304C>T
2 papers
NM_153427.3
p.S48delFs
c.143_144delGC
2 papers
NM_153427.3
p.S48fs
c.142_143fs
2 papers
NM_000325.6
p.Q102L
c.305A>T
1 paper
NM_000325.6
p.Q102R
c.305A>G
3 papers
NM_000325.6
p.T100_S101Fs
c.300_301delinsTFs
3 papers
NM_153427.3
p.Q50*
c.148C>T
NM_000325.6
p.Q103*
c.307C>T
1 paper
NM_000325.6
p.Q103E
c.307C>G
1 paper
NM_000325.6
p.Q103R
c.308A>G
1 paper
NM_153427.3
p.F46delFs
c.137_138delAA
2 papers
NM_153427.3
p.H45_F46delFs
c.134_137del4
1 paper
NM_000325.6
p.Q103H
c.309G>T
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