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

1–12 of 103 variants

10 papers

NM_001173467.3

p.E351delFs

c.1052delT

9 papers

NM_001173467.3

p.S309W

c.926C>G

8 papers

NM_001173467.3

p.R316C

c.946C>T

5 papers

NM_001173467.3

p.E340A

c.1019A>C

4 papers

NM_001173467.3

p.G169insFs

c.506dupG

4 papers

NM_001173467.3

p.R289W

c.865C>T

3 papers

NM_001173467.3

p.K230R

c.689A>G

2 papers

NM_001173467.3

p.D120fs

c.358_359fs

2 papers

NM_001173467.3

p.D120_C121delFs

c.359_362del4

2 papers

NM_001173467.3

p.C275Y

c.824G>A

2 papers

NM_001173467.3

p.I298S

c.893T>G

2 papers

NM_001173467.3

p.Y305H

c.913T>C