Varaico: Literature-Extracted Genetic Variants

SALL1

512 papers

RefSeq Summary

The protein encoded by this gene is a zinc finger transcriptional repressor and may be part of the NuRD histone deacetylase complex (HDAC). Defects in this gene are a cause of Townes-Brocks syndrome (...

Pfam Domains

zf-C2H2aa 477–499UCSCZinc finger, C2H2 type

zf-C2H2aa 734–756UCSCZinc finger, C2H2 type

zf-C2H2aa 766–788UCSCZinc finger, C2H2 type

zf-metaa 1001–1024UCSCZinc-finger of C2H2 type

zf-C2H2aa 1029–1051UCSCZinc finger, C2H2 type

zf-C2H2aa 1134–1156UCSCZinc finger, C2H2 type

Gene Aliases

HGNC Name

spalt like transcription factor 1

HGNC Previous Symbol

TBS

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002968.3

p.P149_S150ins2

c.447_448ins6

Surrounding Variants

1 paper

NM_002968.3

p.P149_S150ins1

c.447_448insAGC

1 paper

NM_001127892.2

p.A51insFs

c.152_153insC

1 paper

NM_002968.3

p.A148A

c.444C>T

1 paper

NM_002968.3

p.S152N

c.455G>A

1 paper

NM_002968.3

p.S143insFs

c.429dupC

1 paper

NM_002968.3

p.H144Y

c.430C>T

2 papers

NM_002968.3

p.S156N

c.467G>A

1 paper

NM_002968.3

p.S157N

c.470G>A

1 paper

NM_002968.3

p.S158R

c.472A>C

1 paper

NM_002968.3

p.S158delFs

c.472delT

1 paper

NM_002968.3

p.S141S

c.423C>T

1 paper

NM_002968.3

p.S141delFs

c.421_422delCT