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.M726V

c.2176A>G

Surrounding Variants

2 papers

NM_020436.5

p.A728P

c.2182G>C

1 paper

NM_020436.5

p.A728D

c.2183C>A

1 paper

NM_020436.5

p.G723W

c.2167G>T

1 paper

NM_020436.5

p.G723_F724insGGA

c.2167_2171ins9

1 paper

NM_020436.5

p.S729F

c.2186C>T

1 paper

NM_020436.5

p.T721M

c.2162C>T

1 paper

NM_020436.5

p.P720L

c.2159C>T

1 paper

NM_020436.5

p.G734W

c.2200G>T

1 paper

NM_020436.5

p.A718T

c.2152G>A

1 paper

NM_020436.5

p.G737fs

c.2209_2210fs

1 paper

NM_020436.5

p.G737delFs

c.2210delC

1 paper

NM_020436.5

p.P738S

c.2212C>T