Varaico: Literature-Extracted Genetic Variants

SP4

46 papers

RefSeq Summary

The protein encoded by this gene is a transcription factor that can bind to the GC promoter region of a variety of genes, including those of the photoreceptor signal transduction system. The encoded p...

Pfam Domains

zf-C2H2aa 647–671UCSCZinc finger, C2H2 type

zf-C2H2aa 677–701UCSCZinc finger, C2H2 type

zf-C2H2aa 707–729UCSCZinc finger, C2H2 type

Gene Aliases

HGNC Name

Sp4 transcription factor

HGNC Alias Symbols

SPR-1; HF1B; MGC130008; MGC130009

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_003112.5

p.E29A

c.86A>C

Surrounding Variants

1 paper

NM_003112.5

p.S26F

c.77C>T

1 paper

NM_003112.5

p.M18delFs

c.53delT

1 paper

NM_003112.5

p.Q4Q

c.12G>A

1 paper

NM_003112.5

p.Q4H

c.12G>C

1 paper

NM_003112.5

p.D42V

c.125A>T

1 paper

NM_003112.5

p.S43F

c.128C>T

1 paper

NM_003112.5

p.A106A

c.318C>G

1 paper

NM_003112.5

p.A121V

c.362C>T

1 paper

NM_003112.5

p.Q152E

c.454C>G

1 paper

NM_003112.5

p.Q193E

c.577C>G

1 paper

NM_003112.5

p.A201V

c.602C>T

1 paper

NM_003112.5

p.L241V

c.721C>G