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.S764P

c.2290T>C

Surrounding Variants

4 papers

NM_020436.5

p.S763*

c.2288C>G

5 papers

NM_020436.5

p.S763*

c.2288C>A

1 paper

NM_020436.5

p.S763fs

c.2287_2288fs

1 paper

NM_020436.5

p.L766L

c.2296C>T

1 paper

NM_020436.5

p.N761fs

c.2281_2282fs

1 paper

NM_020436.5

p.T760delFs

c.2279delG

4 papers

NM_020436.5

p.T760I

c.2279C>T

1 paper

NM_020436.5

p.L759F

c.2277G>T

1 paper

NM_020436.5

p.L759F

c.2277G>C

1 paper

NM_020436.5

p.E771K

c.2311G>A

1 paper

NM_020436.5

p.V754delFs

c.2260delC

5 papers

NM_020436.5

p.V754M

c.2260G>A