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.L489insFs

c.1467dupT

Surrounding Variants

2 papers

NM_020436.5

p.S490fs

c.1468_1469fs

3 papers

NM_020436.5

p.S490_S491delFs

c.1468_1471del4

1 paper

NM_020436.5

p.G492E

c.1475G>A

2 papers

NM_020436.5

p.P486_Q487del2

c.1456_1460del6

1 paper

NM_020436.5

p.Q487H

c.1461G>T

1 paper

NM_020436.5

p.Q487H

c.1461G>C

1 paper

NM_020436.5

p.N494T

c.1481A>C

2 papers

NM_020436.5

p.T499M

c.1496C>T

1 paper

NM_020436.5

p.G501R

c.1501G>C

1 paper

NM_020436.5

p.G501fs

c.1501_1502fs

1 paper

NM_020436.5

p.G501delFs

c.1502delC

2 papers

NM_020436.5

p.P476delFs

c.1427delG