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

1 paper

NM_020436.5

p.C875*

c.2625T>A

Surrounding Variants

1 paper

NM_020436.5

p.G876R

c.2626G>A

1 paper

NM_020436.5

p.G876V

c.2627G>T

3 papers

NM_020436.5

p.S880S

c.2640G>C

3 papers

NM_020436.5

p.Q869delFs

c.2607delT

1 paper

NM_020436.5

p.Q869fs

c.2605_2606fs

1 paper

NM_020436.5

p.A882D

c.2645C>A

12 papers

NM_020436.5

p.R865*

c.2593C>T

1 paper

NM_020436.5

p.R864delins

c.2591_2592delinsTT

1 paper

NM_020436.5

p.R864L

c.2591G>T

2 papers

NM_020436.5

p.R864C

c.2590C>T

15 papers

NM_020436.5

p.H888R

c.2663A>G

1 paper

NM_020436.5

p.H888Q

c.2664C>G