Varaico: Literature-Extracted Genetic Variants

Gene:PITX2
Variant:p.F58C

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_153427.3
p.F58C
c.173T>G
Surrounding Variants
3 papers
NM_153427.3
p.F58S
c.173T>C
NM_153426.3
p.F104S
c.311T>C
1 paper
NM_000325.6
p.F111insFs
c.331_332insG
3 papers
NM_153427.3
p.F58L
c.172T>C
NM_001204399.1
p.F104L
c.310T>C
3 papers
NM_153427.3
p.F58L
c.174C>G
NM_001204399.1
p.F104L
c.312C>G
3 papers
NM_153427.3
p.F58L
c.174C>A
NM_001204399.1
p.F104L
c.312C>A
1 paper
NM_000325.6
p.E106_F111del6
c.316_332del18
1 paper
NM_000325.6
p.Q112R
c.335A>G
1 paper
NM_000325.6
p.A109V
c.326C>T
2 papers
NM_001204397.2
p.R106S
c.318G>T
NM_000325.6
p.R113S
c.339G>T
1 paper
NM_000325.6
p.R113S
c.339G>C
1 paper
NM_000325.6
p.A109T
c.325G>A
2 papers
NM_000325.6
p.N114Y
c.340A>T
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