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

1–12 of 572 variants

17 papers

NM_020436.5

p.L507R

c.1520T>G

15 papers

NM_020436.5

p.H888R

c.2663A>G

12 papers

NM_020436.5

p.V181M

c.541G>A

12 papers

NM_020436.5

p.T620T

c.1860A>G

12 papers

NM_020436.5

p.R865*

c.2593C>T

8 papers

NM_020436.5

p.N180N

c.540T>C

8 papers

NM_020436.5

p.R617*

c.1849C>T

7 papers

NM_020436.5

p.Q166*

c.496C>T

7 papers

NM_020436.5

p.S281delFs

c.842delC

7 papers

NM_020436.5

p.F429L

c.1285T>C

7 papers

NM_020436.5

p.F429L

c.1287T>G

7 papers

NM_020436.5

p.F429L

c.1287T>A