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.G737delFs

c.2210delC

Surrounding Variants

1 paper

NM_020436.5

p.P738S

c.2212C>T

1 paper

NM_020436.5

p.P738T

c.2212C>A

1 paper

NM_020436.5

p.G737fs

c.2209_2210fs

1 paper

NM_020436.5

p.P738L

c.2213C>T

2 papers

NM_020436.5

p.A739S

c.2215G>T

1 paper

NM_020436.5

p.P740A

c.2218C>G

1 paper

NM_020436.5

p.P740H

c.2219C>A

1 paper

NM_020436.5

p.F741Y

c.2222T>A

1 paper

NM_020436.5

p.G734W

c.2200G>T

1 paper

NM_020436.5

p.K735_L743del9

c.2203_2228del27

2 papers

NM_020436.5

p.R745H

c.2234G>A

1 paper

NM_020436.5

p.S729F

c.2186C>T