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.V530_Q534delFs

c.1590_1600del11

Surrounding Variants

1 paper

NM_003112.5

p.Q473E

c.1417C>G

1 paper

NM_003112.5

p.S464L

c.1391C>T

1 paper

NM_003112.5

p.Q414delins

c.1242delinsT

1 paper

NM_003112.5

p.Q414Fs

c.1240_1242delinsTFs

1 paper

NM_003112.5

p.S392C

c.1175C>G

1 paper

NM_003112.5

p.S362P

c.1084T>C

2 papers

NM_003112.5

p.N306S

c.917A>G

1 paper

NM_003112.5

p.S295C

c.884C>G

1 paper

NM_003112.5

p.P286R

c.857C>G

1 paper

NM_003112.5

p.P286A

c.856C>G

1 paper

NM_003112.5

p.N272S

c.815A>G

1 paper

NM_003112.5

p.L241V

c.721C>G