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.N365_V371del7

c.1093_1112del21

Surrounding Variants

1 paper

NM_020436.5

p.P373P

c.1119C>T

1 paper

NM_020436.5

p.V371V

c.1113C>G

2 papers

NM_020436.5

p.K374R

c.1121A>G

1 paper

NM_020436.5

p.D375_E376delFs

c.1123_1126del4

1 paper

NM_020436.5

p.A377T

c.1129G>A

1 paper

NM_020436.5

p.K381R

c.1142A>G

1 paper

NM_020436.5

p.G359W

c.1075G>T

1 paper

NM_020436.5

p.C387insFs

c.1160_1161insA

1 paper

NM_020436.5

p.C387Y

c.1160G>A

2 papers

NM_020436.5

p.K357R

c.1070A>G

1 paper

NM_020436.5

p.S356F

c.1067C>T

1 paper

NM_020436.5

p.K389*

c.1165A>T