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.T179S

c.535A>T

Surrounding Variants

1 paper

NM_020436.5

p.T179S

c.536C>G

8 papers

NM_020436.5

p.N180N

c.540T>C

1 paper

NM_020436.5

p.A177V

c.530C>T

12 papers

NM_020436.5

p.V181M

c.541G>A

1 paper

NM_020436.5

p.A177T

c.529G>A

2 papers

NM_020436.5

p.V181insFs

c.542dupT

2 papers

NM_020436.5

p.T182fs

c.544_545fs

1 paper

NM_020436.5

p.K175T

c.524A>C

6 papers

NM_020436.5

p.K175*

c.523A>T

1 paper

NM_020436.5

p.K173T

c.518A>C

1 paper

NM_020436.5

p.L186L

c.556C>T

1 paper

NM_020436.5

p.L171F

c.513A>T