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

7 papers

NM_020436.5

p.S281delFs

c.842delC

Surrounding Variants

2 papers

NM_020436.5

p.S281fs

c.841_842fs

1 paper

NM_020436.5

p.Q282E

c.844C>G

1 paper

NM_020436.5

p.Q282fs

c.844_845fs

2 papers

NM_020436.5

p.Q282delFs

c.844delG

1 paper

NM_020436.5

p.Q282fs

c.844_845fs

1 paper

NM_020436.5

p.G283S

c.847G>A

1 paper

NM_020436.5

p.L274L

c.822G>A

1 paper

NM_020436.5

p.A273delFs

c.817delC

1 paper

NM_020436.5

p.K290N

c.870A>T

1 paper

NM_020436.5

p.K290N

c.870A>C

1 paper

NM_020436.5

p.S269F

c.806C>T

1 paper

NM_020436.5

p.S269P

c.805T>C