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.S590S

c.1770A>G

Surrounding Variants

1 paper

NM_002968.3

p.V591V

c.1773C>G

1 paper

NM_002968.3

p.G589fs

c.1765_1766fs

1 paper

NM_002968.3

p.P588insFs

c.1763dupC

1 paper

NM_002968.3

p.P588S

c.1762C>T

1 paper

NM_002968.3

p.P587T

c.1759C>A

1 paper

NM_002968.3

p.S586S

c.1758C>T

1 paper

NM_002968.3

p.G596R

c.1786G>C

1 paper

NM_002968.3

p.G596R

c.1786G>A

1 paper

NM_002968.3

p.T585S

c.1753A>T

1 paper

NM_002968.3

p.H582_S583Fs

c.1746_1747delinsCFs

1 paper

NM_002968.3

p.S581G

c.1741A>G

1 paper

NM_002968.3

p.A601S

c.1801G>T