Varaico: Literature-Extracted Genetic Variants

Gene:SEBOX
Variant:p.W141*

SEBOX

11 papers

RefSeq Summary

Homeodomain proteins, such as SEBOX, play a key role in coordinating gene expression during development (Cinquanta et al., 2000 [PubMed 10922053]).[supplied by OMIM, Mar 2008].

Pfam Domains

Homeodomainaa 20–76UCSCHomeodomain

Gene Aliases

HGNC Name

SEBOX homeobox

HGNC Alias Symbols

OG9; OG9X

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001080837.4
p.W141*
c.423G>A
Surrounding Variants
1 paper
NM_001080837.4
p.W141*
c.422G>A
1 paper
NM_001080837.4
p.V147_W150delFs
c.441_450del10
1 paper
NM_001080837.4
p.V147_W150del4
c.439_449del12
1 paper
NM_001080837.4
p.R121_V124delFs
c.362_371del10
1 paper
NM_001080837.4
p.R164*
c.490C>T
1 paper
NM_001080837.4
p.L181S
c.542T>C
1 paper
NM_001080837.4
p.H49_E50delFs
c.147_150del4
2 papers
NM_001080837.4
p.K28_G29insC
c.82_86ins3
2 papers
NM_001080837.4
p.S27_K28insC
c.79_83ins3
1 paper
NM_001080837.4
p.R23W
c.67C>T
1 paper
NM_001080837.4
p.D11Splc
c.31+1G>A
2 papers
NM_001080837.4
p.A10insFs
c.28_29insC
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