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.T49A

c.145A>G

Surrounding Variants

1 paper

NM_138473.3

p.S48I

c.143G>T

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.S47S

c.141C>T

1 paper

NM_138473.3

p.G51insFs

c.151_152insC

2 papers

NM_138473.3

p.G52insFs

c.155_156insG

2 papers

NM_138473.3

p.G52R

c.154G>A

1 paper

NM_138473.3

p.G52R

c.154G>C

1 paper

NM_138473.3

p.S45R

c.135T>G

3 papers

NM_138473.3

p.S45R

c.133A>C

1 paper

NM_138473.3

p.Q54K

c.160C>A

1 paper

NM_138473.3

p.Q54E

c.160C>G