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

3 papers

NM_138473.3

p.S45R

c.133A>C

Surrounding Variants

1 paper

NM_138473.3

p.S45R

c.135T>G

2 papers

NM_138473.3

p.T43T

c.129A>G

1 paper

NM_138473.3

p.S47S

c.141C>T

1 paper

NM_138473.3

p.S48I

c.143G>T

1 paper

NM_138473.3

p.T49A

c.145A>G

1 paper

NM_138473.3

p.S40S

c.120T>C

2 papers

NM_138473.3

p.S40N

c.119G>A

1 paper

NM_138473.3

p.G50R

c.148G>A

1 paper

NM_138473.3

p.G50*

c.148G>T

1 paper

NM_138473.3

p.R39Q

c.116G>A

1 paper

NM_138473.3

p.R39*

c.115C>T

1 paper

NM_138473.3

p.G51insFs

c.151_152insC