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.S111S

c.333C>T

Surrounding Variants

1 paper

NM_002968.3

p.D112N

c.334G>A

1 paper

NM_002968.3

p.C110Y

c.329G>A

1 paper

NM_002968.3

p.L113F

c.337C>T

1 paper

NM_001127892.2

p.D12_C13insFs

c.36_37insC

1 paper

NM_002968.3

p.L113P

c.338T>C

2 papers

NM_002968.3

p.S114A

c.340T>G

1 paper

NM_002968.3

p.D109N

c.325G>A

1 paper

NM_001127892.2

p.Q10Q

c.30A>G

1 paper

NM_002968.3

p.H116Y

c.346C>T

1 paper

NM_002968.3

p.D106del1

c.316_318delATC

1 paper

NM_002968.3

p.H116H

c.348C>T

1 paper

NM_002968.3

p.N117N

c.351C>T