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.I71L

c.211A>C

Surrounding Variants

1 paper

NM_138473.3

p.I71T

c.212T>C

1 paper

NM_138473.3

p.R70K

c.209G>A

1 paper

NM_138473.3

p.E72V

c.215A>T

1 paper

NM_138473.3

p.S69N

c.206G>A

8 papers

NM_138473.3

p.E72D

c.216G>T

1 paper

NM_138473.3

p.S73*

c.218C>G

1 paper

NM_138473.3

p.P74L

c.221C>T

1 paper

NM_138473.3

p.P74P

c.222C>T

1 paper

NM_138473.3

p.C68_I71del4

c.202_212del12

1 paper

NM_138473.3

p.N75D

c.223A>G

2 papers

NM_138473.3

p.A66S

c.196G>T

1 paper

NM_138473.3

p.E76E

c.228G>A