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.E241insFs

c.722_723insC

Surrounding Variants

1 paper

NM_001173467.3

p.P249L

c.746C>T

1 paper

NM_001173467.3

p.P248_P249del0

c.742_747del6

3 papers

NM_001173467.3

p.K230R

c.689A>G

1 paper

NM_001173467.3

p.S257N

c.770G>A

1 paper

NM_001173467.3

p.P220S

c.658C>T

1 paper

NM_001173467.3

p.S263N

c.788G>A

1 paper

NM_001173467.3

p.P209P

c.627C>A

1 paper

NM_001173467.3

p.P207_A208del1

c.621_623delGCT

2 papers

NM_001173467.3

p.C275Y

c.824G>A

1 paper

NM_001173467.3

p.E277_L278insFs

c.831_832insC

1 paper

NM_001173467.3

p.E277del1

c.829_831delCTC

1 paper

NM_001173467.3

p.D271_E279del9

c.811_836del27