Varaico: Literature-Extracted Genetic Variants

SP7

133 papers

RefSeq Summary

This gene encodes a member of the Sp subfamily of Sp/XKLF transcription factors. Sp family proteins are sequence-specific DNA-binding proteins characterized by an amino-terminal trans-activation domai...

Pfam Domains

zf-C2H2aa 294–318UCSCZinc finger, C2H2 type

zf-C2H2aa 324–348UCSCZinc finger, C2H2 type

zf-C2H2aa 354–376UCSCZinc finger, C2H2 type

Gene Aliases

HGNC Name

Sp7 transcription factor

HGNC Alias Symbols

osterix; OSX

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001173467.3

p.P102T

c.304C>A

Surrounding Variants

1 paper

NM_001173467.3

p.S96_G101del0

c.287_301del15

1 paper

NM_001173467.3

p.H97Y

c.289C>T

1 paper

NM_001173467.3

p.D91_P93ins1

c.271_279dup9

1 paper

NM_001173467.3

p.D91_P93del0

c.271_279del9

1 paper

NM_001173467.3

p.G115E

c.344G>A

1 paper

NM_001173467.3

p.D107_S118delFs

c.320_353del34

1 paper

NM_001173467.3

p.D107_S118del12

c.319_353del36

1 paper

NM_001173467.3

p.P84T

c.250C>A

2 papers

NM_001173467.3

p.D120fs

c.358_359fs

1 paper

NM_001173467.3

p.A83V

c.248C>T

2 papers

NM_001173467.3

p.D120_C121delFs

c.359_362del4

1 paper

NM_001173467.3

p.V125I

c.373G>A