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.C568*

c.1704T>A

Surrounding Variants

1 paper

NM_020436.5

p.N566T

c.1697A>C

4 papers

NM_020436.5

p.R573*

c.1717C>T

1 paper

NM_020436.5

p.V574I

c.1720G>A

1 paper

NM_020436.5

p.T563A

c.1687A>G

1 paper

NM_020436.5

p.S576C

c.1726A>T

1 paper

NM_020436.5

p.D559E

c.1677C>G

1 paper

NM_020436.5

p.D559E

c.1677C>A

1 paper

NM_020436.5

p.D559N

c.1675G>A

1 paper

NM_020436.5

p.S579R

c.1735A>C

1 paper

NM_020436.5

p.S579R

c.1737C>G

1 paper

NM_020436.5

p.S579R

c.1737C>A

1 paper

NM_020436.5

p.S580Y

c.1739C>A