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.Q180*

c.538C>T

Surrounding Variants

1 paper

NM_138473.3

p.D183A

c.548A>C

1 paper

NM_138473.3

p.D183G

c.548A>G

1 paper

NM_138473.3

p.D183E

c.549T>A

1 paper

NM_138473.3

p.D183E

c.549T>G

2 papers

NM_138473.3

p.G184R

c.550G>A

1 paper

NM_138473.3

p.Q186H

c.558G>T

1 paper

NM_138473.3

p.M168delFs

c.504delG

2 papers

NM_138473.3

p.T192A

c.574A>G

1 paper

NM_138473.3

p.V167L

c.499G>T

1 paper

NM_138473.3

p.G166_V167insFs

c.498_499insC

1 paper

NM_138473.3

p.G166insFs

c.497_498insA

2 papers

NM_138473.3

p.G193G

c.579G>T