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

1–12 of 413 variants

10 papers

NM_138473.3

p.Q436*

c.1306C>T

8 papers

NM_138473.3

p.E72D

c.216G>T

8 papers

NM_138473.3

p.R666L

c.1997G>T

7 papers

NM_138473.3

p.S101A

c.301T>G

7 papers

NM_138473.3

p.G103G

c.309T>G

6 papers

NM_138473.3

p.G22G

c.66T>G

6 papers

NM_138473.3

p.I224V

c.670A>G

4 papers

NM_138473.3

p.S87L

c.260C>T

4 papers

NM_138473.3

p.E92D

c.276G>T

4 papers

NM_138473.3

p.V148A

c.443T>C

3 papers

NM_138473.3

p.D9D

c.27T>C

3 papers

NM_138473.3

p.S45R

c.133A>C