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.A809fs

c.2425_2426fs

Surrounding Variants

6 papers

NM_020436.5

p.A809delFs

c.2425delC

1 paper

NM_020436.5

p.K808E

c.2422A>G

1 paper

NM_020436.5

p.D804N

c.2410G>A

1 paper

NM_020436.5

p.R816H

c.2447G>A

1 paper

NM_020436.5

p.S802F

c.2405C>T

5 papers

NM_020436.5

p.T817A

c.2449A>G

1 paper

NM_020436.5

p.T817P

c.2449A>C

1 paper

NM_020436.5

p.T817T

c.2451T>G

1 paper

NM_020436.5

p.E818K

c.2452G>A

1 paper

NM_020436.5

p.G821Splc

c.2461+1G>C

7 papers

NM_020436.5

p.I798L

c.2392A>C

1 paper

NM_020436.5

p.S797C

c.2389A>T