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.W242_S244delFs

c.726_730del5

Surrounding Variants

1 paper

NM_020436.5

p.S244A

c.730T>G

1 paper

NM_020436.5

p.S244P

c.730T>C

1 paper

NM_020436.5

p.H245N

c.733C>A

1 paper

NM_020436.5

p.A243delFs

c.727delC

1 paper

NM_020436.5

p.H245L

c.734A>T

1 paper

NM_020436.5

p.A246T

c.736G>A

1 paper

NM_020436.5

p.L247F

c.739C>T

1 paper

NM_020436.5

p.N240Y

c.718A>T

1 paper

NM_020436.5

p.H245_H248del0

c.735_743del9

2 papers

NM_020436.5

p.Q238*

c.712C>T

2 papers

NM_020436.5

p.G251R

c.751G>C

2 papers

NM_020436.5

p.G251R

c.751G>A