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.A795T

c.2383G>A

Surrounding Variants

2 papers

NM_020436.5

p.E796K

c.2386G>A

1 paper

NM_020436.5

p.S797C

c.2389A>T

1 paper

NM_020436.5

p.N792S

c.2375A>G

7 papers

NM_020436.5

p.I798L

c.2392A>C

1 paper

NM_020436.5

p.A791D

c.2372C>A

1 paper

NM_020436.5

p.S802F

c.2405C>T

1 paper

NM_020436.5

p.D804N

c.2410G>A

1 paper

NM_020436.5

p.K808E

c.2422A>G

1 paper

NM_020436.5

p.E781D

c.2343A>T

1 paper

NM_020436.5

p.E781D

c.2343A>C

6 papers

NM_020436.5

p.A809delFs

c.2425delC

2 papers

NM_020436.5

p.A809fs

c.2425_2426fs