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

2 papers

NM_138473.3

p.Q410R

c.1229A>G

Surrounding Variants

1 paper

NM_138473.3

p.Q410delFs

c.1230delG

1 paper

NM_138473.3

p.L412F

c.1234C>T

2 papers

NM_138473.3

p.L412L

c.1236C>T

1 paper

NM_138473.3

p.Q407_G408insFs

c.1221_1222insT

1 paper

NM_138473.3

p.Q407*

c.1219C>T

1 paper

NM_138473.3

p.L415I

c.1243C>A

1 paper

NM_138473.3

p.A417S

c.1249G>T

1 paper

NM_138473.3

p.A418A

c.1254A>G

1 paper

NM_138473.3

p.I401T

c.1202T>C

1 paper

NM_138473.3

p.I399V

c.1195A>G

1 paper

NM_138473.3

p.S421S

c.1263A>G

1 paper

NM_138473.3

p.Q398H

c.1194A>C