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

2 papers

NM_020436.5

p.N453S

c.1358A>G

Surrounding Variants

1 paper

NM_020436.5

p.N453T

c.1358A>C

1 paper

NM_020436.5

p.N453_G454delFs

c.1358_1361del4

1 paper

NM_020436.5

p.A451A

c.1353C>T

1 paper

NM_020436.5

p.A450fs

c.1348_1349fs

1 paper

NM_020436.5

p.K448T

c.1343A>C

1 paper

NM_020436.5

p.L459delFs

c.1375delG

1 paper

NM_020436.5

p.Q446P

c.1337A>C

1 paper

NM_020436.5

p.A443T

c.1327G>A

1 paper

NM_020436.5

p.P464L

c.1391C>T

1 paper

NM_020436.5

p.F442I

c.1324T>A

1 paper

NM_020436.5

p.I465V

c.1393A>G

1 paper

NM_020436.5

p.Q440H

c.1320G>T