Varaico: Literature-Extracted Genetic Variants

Gene:PITX2
Variant:p.K36delFs

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.K36delFs
c.108delC
Surrounding Variants
1 paper
NM_153427.3
p.K37fs
c.109_110fs
7 papers
NM_000325.6
p.R91W
c.271C>T
NM_001204398.1
p.R84W
c.250C>T
3 papers
NM_000325.6
p.R91G
c.271C>G
NM_001204397.2
p.R84G
c.250C>G
1 paper
NM_000325.6
p.K88N
c.264G>T
1 paper
NM_000325.6
p.K88_K89insFs
c.264_265insC
16 papers
NM_000325.6
p.R91P
c.272G>C
NM_001204397.2
p.R84P
c.251G>C
1 paper
NM_000325.6
p.K88N
c.264G>C
7 papers
NM_000325.6
p.R91Q
c.272G>A
2 papers
NM_000325.6
p.K88R
c.263A>G
1 paper
NM_000325.6
p.Q92*
c.274C>T
2 papers
NM_153427.3
p.R38delFs
c.114delC
1 paper
NM_000325.6
p.K88_R91del0
c.262_273del12
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