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.S474R

c.1422C>A

Surrounding Variants

1 paper

NM_020436.5

p.S474R

c.1422C>G

1 paper

NM_020436.5

p.S474I

c.1421G>T

1 paper

NM_020436.5

p.K475R

c.1424A>G

1 paper

NM_020436.5

p.S474R

c.1420A>C

2 papers

NM_020436.5

p.P476delFs

c.1427delG

1 paper

NM_020436.5

p.S471delFs

c.1411delA

1 paper

NM_020436.5

p.P468L

c.1403C>T

1 paper

NM_020436.5

p.I465V

c.1393A>G

1 paper

NM_020436.5

p.P464L

c.1391C>T

1 paper

NM_020436.5

p.Q487H

c.1461G>T

1 paper

NM_020436.5

p.Q487H

c.1461G>C

2 papers

NM_020436.5

p.P486_Q487del2

c.1456_1460del6