Varaico: Literature-Extracted Genetic Variants

SALL4

268 papers

RefSeq Summary

This gene encodes a zinc finger transcription factor thought to play a role in the development of abducens motor neurons. Defects in this gene are a cause of Duane-radial ray syndrome (DRRS). Alternat...

Pfam Domains

zf-C2H2aa 382–404UCSCZinc finger, C2H2 type

zf-C2H2aa 410–432UCSCZinc finger, C2H2 type

zf-C2H2aa 594–616UCSCZinc finger, C2H2 type

Gene Aliases

HGNC Name

spalt like transcription factor 4

HGNC Alias Symbols

dJ1112F19.1; ZNF797

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_020436.5

p.S849delFs

c.2545delA

Surrounding Variants

1 paper

NM_020436.5

p.G847A

c.2540G>C

1 paper

NM_001318031.2

p.G410E

c.1229G>A

1 paper

NM_020436.5

p.L851delFs

c.2552delA

4 papers

NM_020436.5

p.F845_V846Fs

c.2535_2536delinsAFs

3 papers

NM_020436.5

p.F845fs

c.2533_2534fs

1 paper

NM_020436.5

p.T844I

c.2531C>T

1 paper

NM_001318031.2

p.L421W

c.1262T>G

NM_020436.5

p.L858W

c.2573T>G

2 papers

NM_020436.5

p.V837G

c.2510T>G

1 paper

NM_001318031.2

p.Y399C

c.1196A>G

2 papers

NM_020436.5

p.R864C

c.2590C>T

1 paper

NM_020436.5

p.R864L

c.2591G>T

1 paper

NM_020436.5

p.P834T

c.2500C>A