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.S413A

c.1237T>G

Surrounding Variants

1 paper

NM_020436.5

p.C412C

c.1236C>T

1 paper

NM_020436.5

p.C412S

c.1235G>C

1 paper

NM_020436.5

p.C412S

c.1234T>A

1 paper

NM_020436.5

p.V414A

c.1241T>C

2 papers

NM_020436.5

p.V411A

c.1232T>C

1 paper

NM_020436.5

p.V411E

c.1232T>A

1 paper

NM_020436.5

p.V411L

c.1231G>T

1 paper

NM_020436.5

p.F410insFs

c.1230dupC

1 paper

NM_020436.5

p.V411L

c.1231G>C

3 papers

NM_020436.5

p.F410fs

c.1228_1229fs

1 paper

NM_020436.5

p.F410V

c.1228T>G

4 papers

NM_020436.5

p.G416A

c.1247G>C