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.G51E

c.152G>A

Surrounding Variants

1 paper

NM_020436.5

p.G51V

c.152G>T

1 paper

NM_020436.5

p.G51insFs

c.152_153insC

1 paper

NM_020436.5

p.G51R

c.151G>C

2 papers

NM_020436.5

p.G51R

c.151G>A

1 paper

NM_020436.5

p.H49D

c.145C>G

1 paper

NM_020436.5

p.A56V

c.167C>T

1 paper

NM_020436.5

p.E58K

c.172G>A

1 paper

NM_020436.5

p.V63I

c.187G>A

3 papers

NM_020436.5

p.K64R

c.191A>G

1 paper

NM_020436.5

p.R65L

c.194G>T

2 papers

NM_020436.5

p.R65R

c.195G>A

1 paper

NM_020436.5

p.R67G

c.199C>G