Varaico: Literature-Extracted Genetic Variants

Gene:PKNOX2
Variant:p.I365L

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.I365L
c.1093A>C
Surrounding Variants
1 paper
NM_001382323.2
p.K366Q
c.1096A>C
1 paper
NM_001382323.2
p.K363R
c.1088A>G
1 paper
NM_001382323.2
p.H369Q
c.1107C>A
1 paper
NM_001382323.2
p.H369Q
c.1107C>G
1 paper
NM_001382323.2
p.R370Q
c.1109G>A
1 paper
NM_001382323.2
p.A353D
c.1058C>A
1 paper
NM_001382323.2
p.A381T
c.1141G>A
1 paper
NM_001382323.2
p.Q348*
c.1042C>T
1 paper
NM_001382323.2
p.A382V
c.1145C>T
1 paper
NM_001382323.2
p.N341Y
c.1021A>T
1 paper
NM_001382323.2
p.T394P
c.1180A>C
1 paper
NM_001382323.2
p.N395H
c.1183A>C
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