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

2 papers

NM_002968.3

p.S164del1

c.490_491delGCT

Surrounding Variants

1 paper

NM_002968.3

p.S165A

c.493T>G

1 paper

NM_002968.3

p.S165S

c.495C>G

1 paper

NM_002968.3

p.S164G

c.490A>G

1 paper

NM_002968.3

p.T167T

c.501A>G

1 paper

NM_002968.3

p.G168S

c.502G>A

1 paper

NM_002968.3

p.G162S

c.484G>A

1 paper

NM_002968.3

p.S159_G160insFs

c.477_480dup4

1 paper

NM_002968.3

p.T169I

c.506C>T

3 papers

NM_002968.3

p.S159ins0

c.475_477dupAGC

2 papers

NM_002968.3

p.S156_S159ins1

c.466_477dup12

4 papers

NM_002968.3

p.G160S

c.478G>A

5 papers

NM_002968.3

p.S159del1

c.475_477delGCT