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.G136insFs

c.407dupG

Surrounding Variants

1 paper

NM_001173467.3

p.H133Y

c.397C>T

1 paper

NM_001173467.3

p.T132I

c.395C>T

1 paper

NM_001173467.3

p.S128A

c.382T>G

1 paper

NM_001173467.3

p.T127I

c.380C>T

1 paper

NM_001173467.3

p.V125insFs

c.375dupC

1 paper

NM_001173467.3

p.I147_S148insFs

c.441_442insC

1 paper

NM_001173467.3

p.V125I

c.373G>A

1 paper

NM_001173467.3

p.S148L

c.443C>T

2 papers

NM_001173467.3

p.D120_C121delFs

c.359_362del4

2 papers

NM_001173467.3

p.D120fs

c.358_359fs

1 paper

NM_001173467.3

p.D107_S118del12

c.319_353del36

1 paper

NM_001173467.3

p.D107_S118delFs

c.320_353del34