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.V73fs

c.217_218fs

Surrounding Variants

1 paper

NM_020436.5

p.C74R

c.220T>C

1 paper

NM_020436.5

p.E75_K76insFs

c.225_226insAC

1 paper

NM_020436.5

p.E70G

c.209A>G

1 paper

NM_020436.5

p.E70Q

c.208G>C

1 paper

NM_020436.5

p.C77S

c.229T>A

1 paper

NM_020436.5

p.E69*

c.205G>T

1 paper

NM_020436.5

p.R68Q

c.203G>A

1 paper

NM_020436.5

p.R68W

c.202C>T

1 paper

NM_020436.5

p.A79T

c.235G>A

1 paper

NM_020436.5

p.R67G

c.199C>G

1 paper

NM_020436.5

p.A79A

c.237G>A

1 paper

NM_020436.5

p.E80K

c.238G>A