Varaico: Literature-Extracted Genetic Variants

Gene:PITX2
Variant:p.S37W

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
5 papers
NM_000325.6
p.S37W
c.110C>G
Surrounding Variants
1 paper
NM_000325.6
p.A36delFs
c.108delA
1 paper
NM_000325.6
p.A34_S37delFs
c.100_109del10
1 paper
NM_000325.6
p.S37A
c.109T>G
1 paper
NM_000325.6
p.S37T
c.109T>A
2 papers
NM_000325.6
p.L33_A36delFs
c.99_108del10
1 paper
NM_000325.6
p.V38I
c.112G>A
1 paper
NM_000325.6
p.V38delFs
c.114delA
4 papers
NM_000325.6
p.M35L
c.103A>T
1 paper
NM_000325.6
p.M35L
c.103A>C
1 paper
NM_000325.6
p.Q31_A34delFs
c.93_102del10
1 paper
NM_000325.6
p.A40T
c.118G>A
1 paper
NM_000325.6
p.A40G
c.119C>G
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