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.P542delFs

c.1625delG

Surrounding Variants

1 paper

NM_020436.5

p.E543Q

c.1627G>C

1 paper

NM_020436.5

p.P544S

c.1630C>T

1 paper

NM_020436.5

p.G545A

c.1634G>C

1 paper

NM_020436.5

p.G538E

c.1613G>A

1 paper

NM_020436.5

p.K550I

c.1649A>T

1 paper

NM_020436.5

p.K550T

c.1649A>C

1 paper

NM_020436.5

p.P531S

c.1591C>T

2 papers

NM_020436.5

p.V555M

c.1663G>A

1 paper

NM_020436.5

p.E556Q

c.1666G>C

1 paper

NM_020436.5

p.D559N

c.1675G>A

3 papers

NM_020436.5

p.P526fs

c.1576_1577fs

1 paper

NM_020436.5

p.D559E

c.1677C>G