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

2 papers

NM_001173467.3

p.I298S

c.893T>G

Surrounding Variants

1 paper

NM_001173467.3

p.I298V

c.892A>G

1 paper

NM_001173467.3

p.I293delFs

c.879delG

1 paper

NM_001173467.3

p.G287_C301del15

c.859_902del45

1 paper

NM_001173467.3

p.K303R

c.908A>G

1 paper

NM_001173467.3

p.K291del1

c.871_873delCTT

2 papers

NM_001173467.3

p.Y305H

c.913T>C

4 papers

NM_001173467.3

p.R289W

c.865C>T

1 paper

NM_001173467.3

p.S309L

c.926C>T

9 papers

NM_001173467.3

p.S309W

c.926C>G

1 paper

NM_001173467.3

p.S309*

c.926C>A

2 papers

NM_001173467.3

p.K312del1

c.934_936delCTT

1 paper

NM_001173467.3

p.C270_L281delFs

c.809_843del35