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.H642H

c.1926C>T

Surrounding Variants

1 paper

NM_138473.3

p.S641A

c.1921T>G

1 paper

NM_138473.3

p.K639R

c.1916A>G

1 paper

NM_138473.3

p.R648C

c.1942C>T

1 paper

NM_138473.3

p.G652D

c.1955G>A

1 paper

NM_138473.3

p.I630L

c.1888A>C

1 paper

NM_138473.3

p.I630V

c.1888A>G

2 papers

NM_138473.3

p.F656V

c.1966T>G

1 paper

NM_138473.3

p.G664E

c.1991G>A

1 paper

NM_138473.3

p.G664A

c.1991G>C

1 paper

NM_138473.3

p.K665delFs

c.1995delA

1 paper

NM_138473.3

p.K665fs

c.1993_1994fs

1 paper

NM_138473.3

p.K665fs

c.1993_1994fs