Varaico: Literature-Extracted Genetic Variants

Gene:PITX2
Variant:p.A272T

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.A272T
c.814G>A
Surrounding Variants
1 paper
NM_153427.3
p.P214_A219delFs
c.640_656del17
1 paper
NM_000325.6
p.P273P
c.819G>A
1 paper
NM_000325.6
p.P274fs
c.820_821fs
1 paper
NM_000325.6
p.S262_P273del12
c.784_818del36
1 paper
NM_153427.3
p.C216*
c.648T>A
1 paper
NM_000325.6
p.C269Y
c.806G>A
1 paper
NM_000325.6
p.P274delFs
c.821delG
1 paper
NM_000325.6
p.P276S
c.826C>T
1 paper
NM_153427.3
p.P224fs
c.670_671fs
1 paper
NM_153427.3
p.P221_P224insFs
c.663_670dup8
1 paper
NM_000325.6
p.P273_P277ins1
c.818_829dup12
1 paper
NM_000325.6
p.P265insFs
c.793_794insC
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