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.F330L

c.990C>A

Surrounding Variants

5 papers

NM_001173467.3

p.E340A

c.1019A>C

1 paper

NM_001173467.3

p.R343G

c.1027C>G

8 papers

NM_001173467.3

p.R316C

c.946C>T

1 paper

NM_001173467.3

p.L315F

c.945G>T

1 paper

NM_001173467.3

p.L315F

c.945G>C

1 paper

NM_001173467.3

p.R346H

c.1037G>A

2 papers

NM_001173467.3

p.K312del1

c.934_936delCTT

1 paper

NM_001173467.3

p.E351*

c.1051G>T

2 papers

NM_001173467.3

p.E351fs

c.1051_1052fs

10 papers

NM_001173467.3

p.E351delFs

c.1052delT

1 paper

NM_001173467.3

p.S309L

c.926C>T

9 papers

NM_001173467.3

p.S309W

c.926C>G