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.Q217H

c.651G>C

Surrounding Variants

1 paper

NM_020436.5

p.Q217H

c.651G>T

1 paper

NM_020436.5

p.Q217R

c.650A>G

1 paper

NM_020436.5

p.L215L

c.645C>T

1 paper

NM_020436.5

p.L215L

c.645C>G

1 paper

NM_020436.5

p.C220Y

c.659G>A

1 paper

NM_020436.5

p.W213L

c.638G>T

1 paper

NM_020436.5

p.C220_Q223delFs

c.659_668del10

1 paper

NM_020436.5

p.L226P

c.677T>C

1 paper

NM_020436.5

p.V205_G207delFs

c.613_619del7

1 paper

NM_020436.5

p.G207delFs

c.620delC

1 paper

NM_020436.5

p.Q228L

c.683A>T

2 papers

NM_020436.5

p.P206fs

c.616_617fs