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.S396F

c.1187C>T

Surrounding Variants

1 paper

NM_020436.5

p.S395N

c.1184G>A

1 paper

NM_020436.5

p.Q398*

c.1192C>T

1 paper

NM_020436.5

p.T393I

c.1178C>T

1 paper

NM_020436.5

p.H400D

c.1198C>G

1 paper

NM_020436.5

p.R402C

c.1204C>T

1 paper

NM_020436.5

p.V390G

c.1169T>G

1 paper

NM_020436.5

p.R402H

c.1205G>A

1 paper

NM_020436.5

p.K389*

c.1165A>T

1 paper

NM_020436.5

p.C387insFs

c.1160_1161insA

1 paper

NM_020436.5

p.C387Y

c.1160G>A

2 papers

NM_020436.5

p.P409R

c.1226C>G

4 papers

NM_020436.5

p.R408_P409insFs

c.1223_1226dup4