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

2 papers

NM_020436.5

p.R617G

c.1849C>G

Surrounding Variants

8 papers

NM_020436.5

p.R617*

c.1849C>T

1 paper

NM_020436.5

p.T620A

c.1858A>G

2 papers

NM_020436.5

p.L613fs

c.1837_1838fs

12 papers

NM_020436.5

p.T620T

c.1860A>G

3 papers

NM_020436.5

p.H612insFs

c.1835_1836dupAC

1 paper

NM_020436.5

p.T611A

c.1831A>G

1 paper

NM_020436.5

p.K623N

c.1869G>T

1 paper

NM_020436.5

p.K623N

c.1869G>C

1 paper

NM_020436.5

p.K610*

c.1828A>T

1 paper

NM_020436.5

p.T624M

c.1871C>T

1 paper

NM_020436.5

p.N608delFs

c.1823delT

1 paper

NM_020436.5

p.N608fs

c.1822_1823fs