Varaico: Literature-Extracted Genetic Variants

Gene:PKNOX2
Variant:p.S428*

PKNOX2

39 papers

RefSeq Summary

Homeodomain proteins are sequence-specific transcription factors that share a highly conserved DNA-binding domain and play fundamental roles in cell proliferation, differentiation, and death. PKNOX2 b...

Pfam Domains

Meis_PKNOX_Naa 66–173UCSCTALE/MEIS homeobox family N-terminal domain
Homeobox_KNaa 306–345UCSCHomeobox KN domain

Gene Aliases

HGNC Name

PBX/knotted 1 homeobox 2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001382323.2
p.S428*
c.1283C>G
Surrounding Variants
1 paper
NM_001382323.2
p.S428*
c.1283C>A
1 paper
NM_001382323.2
p.D426N
c.1276G>A
1 paper
NM_001382323.2
p.E433K
c.1297G>A
2 papers
NM_001382323.2
p.E442del1
c.1324_1325delGAG
1 paper
NM_001382323.2
p.D453N
c.1357G>A
1 paper
NM_001382323.2
p.I400T
c.1199T>C
1 paper
NM_001382323.2
p.S399F
c.1196C>T
1 paper
NM_001382323.2
p.D462N
c.1384G>A
1 paper
NM_001382323.2
p.G464G
c.1392C>T
1 paper
NM_001382323.2
p.N395H
c.1183A>C
1 paper
NM_001382323.2
p.T394P
c.1180A>C
1 paper
NM_001382323.2
p.A382V
c.1145C>T
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