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.S247T

c.739T>A

Surrounding Variants

1 paper

NM_138473.3

p.L246L

c.738C>T

1 paper

NM_138473.3

p.S247S

c.741A>T

3 papers

NM_138473.3

p.L246H

c.737T>A

1 paper

NM_138473.3

p.G248E

c.743G>A

1 paper

NM_138473.3

p.G248A

c.743G>C

1 paper

NM_138473.3

p.N244_V245insTG

c.730_734ins6

2 papers

NM_138473.3

p.T250A

c.748A>G

1 paper

NM_138473.3

p.N243I

c.728A>T

1 paper

NM_138473.3

p.Q251*

c.751C>T

1 paper

NM_138473.3

p.Q251Q

c.753G>A

1 paper

NM_138473.3

p.L241V

c.721C>G

1 paper

NM_138473.3

p.V253G

c.758T>G