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

17 papers

NM_020436.5

p.L507R

c.1520T>G

Surrounding Variants

1 paper

NM_020436.5

p.L498_D506del9

c.1492_1517del27

1 paper

NM_020436.5

p.D506fs

c.1516_1517fs

1 paper

NM_020436.5

p.P504_G505insFs

c.1512_1513ins37

1 paper

NM_020436.5

p.G501delFs

c.1502delC

1 paper

NM_020436.5

p.P513R

c.1538C>G

1 paper

NM_020436.5

p.G501R

c.1501G>C

1 paper

NM_020436.5

p.G501fs

c.1501_1502fs

2 papers

NM_020436.5

p.T499M

c.1496C>T

1 paper

NM_020436.5

p.E516G

c.1547A>G

1 paper

NM_020436.5

p.P519T

c.1555C>A

1 paper

NM_020436.5

p.N494T

c.1481A>C

1 paper

NM_020436.5

p.G492E

c.1475G>A