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

3 papers

NM_020436.5

p.A149V

c.446C>T

Surrounding Variants

1 paper

NM_020436.5

p.P147P

c.441G>A

3 papers

NM_020436.5

p.P147S

c.439C>T

1 paper

NM_020436.5

p.M143I

c.429G>A

1 paper

NM_020436.5

p.M143V

c.427A>G

1 paper

NM_020436.5

p.K156M

c.467A>T

2 papers

NM_020436.5

p.K156R

c.467A>G

1 paper

NM_020436.5

p.D142Y

c.424G>T

1 paper

NM_020436.5

p.E158K

c.472G>A

1 paper

NM_020436.5

p.S140delFs

c.419delG

1 paper

NM_020436.5

p.S140*

c.419C>G

1 paper

NM_020436.5

p.S140*

c.419C>A

1 paper

NM_020436.5

p.S140T

c.418T>A