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.K92I

c.275A>T

Surrounding Variants

1 paper

NM_020436.5

p.K91N

c.273G>T

1 paper

NM_020436.5

p.K91N

c.273G>C

1 paper

NM_020436.5

p.C94R

c.280T>C

1 paper

NM_020436.5

p.T95S

c.283A>T

1 paper

NM_020436.5

p.T95S

c.284C>G

1 paper

NM_020436.5

p.K96E

c.286A>G

1 paper

NM_020436.5

p.E86K

c.256G>A

1 paper

NM_020436.5

p.P99T

c.295C>A

1 paper

NM_020436.5

p.I84M

c.252C>G

1 paper

NM_020436.5

p.I84V

c.250A>G

1 paper

NM_020436.5

p.F82_S83insFs

c.246_247insAA

1 paper

NM_020436.5

p.N104S

c.311A>G