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.W158G

c.472T>G

Surrounding Variants

1 paper

NM_001173467.3

p.H162Y

c.484C>T

1 paper

NM_001173467.3

p.W167C

c.501G>C

1 paper

NM_001173467.3

p.S148L

c.443C>T

1 paper

NM_001173467.3

p.I147_S148insFs

c.441_442insC

1 paper

NM_001173467.3

p.G169C

c.505G>T

4 papers

NM_001173467.3

p.G169insFs

c.506dupG

1 paper

NM_001173467.3

p.G169delFs

c.505_506delCC

1 paper

NM_001173467.3

p.G170V

c.509G>T

1 paper

NM_001173467.3

p.G171V

c.512G>T

1 paper

NM_001173467.3

p.G177W

c.529G>T

1 paper

NM_001173467.3

p.G136insFs

c.407dupG

1 paper

NM_001173467.3

p.Q179R

c.536A>G