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.R831Q

c.2492G>A

Surrounding Variants

5 papers

NM_020436.5

p.R831*

c.2491C>T

1 paper

NM_020436.5

p.R831fs

c.2491_2492fs

1 paper

NM_020436.5

p.T828delFs

c.2484delC

1 paper

NM_020436.5

p.P834T

c.2500C>A

1 paper

NM_020436.5

p.T828M

c.2483C>T

1 paper

NM_020436.5

p.T828S

c.2482A>T

4 papers

NM_020436.5

p.P826fs

c.2476_2477fs

5 papers

NM_020436.5

p.P826delFs

c.2477delG

1 paper

NM_001318031.2

p.Y399C

c.1196A>G

2 papers

NM_020436.5

p.V837G

c.2510T>G

1 paper

NM_020436.5

p.G821Splc

c.2462-1G>T

1 paper

NM_020436.5

p.G821Splc

c.2462-2A>G