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

6 papers

NM_020436.5

p.A352delFs

c.1054delC

Surrounding Variants

1 paper

NM_020436.5

p.A352V

c.1055C>T

2 papers

NM_020436.5

p.A352fs

c.1054_1055fs

6 papers

NM_020436.5

p.A352A

c.1056G>A

1 paper

NM_020436.5

p.L353P

c.1058T>C

1 paper

NM_020436.5

p.S356F

c.1067C>T

2 papers

NM_020436.5

p.K357R

c.1070A>G

2 papers

NM_020436.5

p.S346N

c.1037G>A

1 paper

NM_020436.5

p.G359W

c.1075G>T

1 paper

NM_020436.5

p.Q345*

c.1033C>T

1 paper

NM_020436.5

p.S341T

c.1021T>A

1 paper

NM_020436.5

p.G340D

c.1019G>A

1 paper

NM_020436.5

p.P339L

c.1016C>T