Varaico: Literature-Extracted Genetic Variants

Gene:PKNOX2
Variant:p.N274S

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.N274S
c.821A>G
Surrounding Variants
1 paper
NM_001382323.2
p.T278P
c.832A>C
1 paper
NM_001382323.2
p.K287N
c.861G>C
1 paper
NM_001382323.2
p.K291E
c.871A>G
1 paper
NM_001382323.2
p.R292L
c.875G>T
1 paper
NM_001382323.2
p.F308fs
c.922_923fs
1 paper
NM_001382323.2
p.F308delFs
c.924delC
1 paper
NM_001382323.2
p.G264A
c.791G>C
1 paper
NM_001382323.2
p.S252P
c.754T>C
2 papers
NM_001382323.2
p.P246L
c.737C>T
1 paper
NM_001382323.2
p.G240Splc
c.718+4G>A
1 paper
NM_001382323.2
p.N227D
c.679A>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."