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.D114E

c.342C>A

Surrounding Variants

1 paper

NM_020436.5

p.D114E

c.342C>G

1 paper

NM_020436.5

p.S116Y

c.347C>A

2 papers

NM_020436.5

p.G117R

c.349G>C

2 papers

NM_020436.5

p.G117R

c.349G>A

2 papers

NM_020436.5

p.A118T

c.352G>A

1 paper

NM_020436.5

p.V119G

c.356T>G

2 papers

NM_020436.5

p.P109fs

c.325_326fs

5 papers

NM_020436.5

p.P109delFs

c.326delG

1 paper

NM_020436.5

p.V119V

c.357A>G

1 paper

NM_020436.5

p.G108fs

c.322_323fs

1 paper

NM_020436.5

p.M103_N104delFs

c.309_312del4

1 paper

NM_020436.5

p.D105G

c.314A>G