Varaico: Literature-Extracted Genetic Variants

SP1

825 papers

RefSeq Summary

The protein encoded by this gene is a zinc finger transcription factor that binds to GC-rich motifs of many promoters. The encoded protein is involved in many cellular processes, including cell differ...

Pfam Domains

zf-C2H2aa 626–650UCSCZinc finger, C2H2 type

zf-C2H2aa 656–680UCSCZinc finger, C2H2 type

zf-C2H2aa 686–708UCSCZinc finger, C2H2 type

Gene Aliases

HGNC Name

Sp1 transcription factor

HGNC Alias Name

specificity protein 1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_138473.3

p.A226V

c.677C>T

Surrounding Variants

1 paper

NM_138473.3

p.I225_A226Fs

c.675_676delinsGFs

6 papers

NM_138473.3

p.I224V

c.670A>G

1 paper

NM_138473.3

p.G222S

c.664G>A

1 paper

NM_138473.3

p.R218*

c.652C>T

1 paper

NM_138473.3

p.N217insFs

c.649_650insG

1 paper

NM_138473.3

p.P237S

c.709C>T

1 paper

NM_138473.3

p.I215T

c.644T>C

1 paper

NM_138473.3

p.Q239insFs

c.716_717insG

1 paper

NM_138473.3

p.G240R

c.718G>C

1 paper

NM_138473.3

p.Q212K

c.634C>A

1 paper

NM_138473.3

p.L241V

c.721C>G

1 paper

NM_138473.3

p.A210E

c.629C>A