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.K190R

c.569A>G

Surrounding Variants

1 paper

NM_020436.5

p.K190E

c.568A>G

1 paper

NM_020436.5

p.V191M

c.571G>A

1 paper

NM_020436.5

p.A192V

c.575C>T

2 papers

NM_020436.5

p.A192E

c.575C>A

1 paper

NM_020436.5

p.R187Q

c.560G>A

1 paper

NM_020436.5

p.L186L

c.556C>T

1 paper

NM_020436.5

p.Q195K

c.583C>A

2 papers

NM_020436.5

p.R196W

c.586C>T

1 paper

NM_020436.5

p.R196Q

c.587G>A

1 paper

NM_020436.5

p.R196R

c.588G>A

1 paper

NM_020436.5

p.A198_D199insFs

c.594_595insA

2 papers

NM_020436.5

p.T182fs

c.544_545fs