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

7 papers

NM_020436.5

p.F429L

c.1287T>A

Surrounding Variants

7 papers

NM_020436.5

p.F429L

c.1287T>G

7 papers

NM_020436.5

p.F429L

c.1285T>C

1 paper

NM_020436.5

p.R431Q

c.1292G>A

1 paper

NM_020436.5

p.Q434_K436delFs

c.1302_1306del5

1 paper

NM_020436.5

p.A437A

c.1311A>G

1 paper

NM_020436.5

p.P439S

c.1315C>T

1 paper

NM_020436.5

p.Q440H

c.1320G>T

1 paper

NM_020436.5

p.Q440H

c.1320G>C

1 paper

NM_020436.5

p.R418H

c.1253G>A

4 papers

NM_020436.5

p.R418C

c.1252C>T

1 paper

NM_020436.5

p.R418S

c.1252C>A

1 paper

NM_020436.5

p.F442I

c.1324T>A