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.P331R

c.992C>G

Surrounding Variants

2 papers

NM_020436.5

p.R329H

c.986G>A

1 paper

NM_020436.5

p.A333V

c.998C>T

1 paper

NM_020436.5

p.R329C

c.985C>T

1 paper

NM_020436.5

p.Q337*

c.1009C>T

1 paper

NM_020436.5

p.N325N

c.975C>T

1 paper

NM_020436.5

p.P339L

c.1016C>T

1 paper

NM_020436.5

p.L323F

c.967C>T

1 paper

NM_020436.5

p.V322delFs

c.964delC

1 paper

NM_020436.5

p.G340D

c.1019G>A

1 paper

NM_020436.5

p.V322L

c.964G>T

1 paper

NM_020436.5

p.V322fs

c.964_965fs

1 paper

NM_020436.5

p.S341T

c.1021T>A