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.S903P

c.2707T>C

Surrounding Variants

1 paper

NM_002968.3

p.D901N

c.2701G>A

1 paper

NM_002968.3

p.D896_V897insFs

c.2686_2689dup4

1 paper

NM_002968.3

p.V897fs

c.2689_2690fs

1 paper

NM_002968.3

p.D896delFs

c.2686delC

1 paper

NM_002968.3

p.G895G

c.2685G>A

1 paper

NM_002968.3

p.Q912E

c.2734C>G

1 paper

NM_002968.3

p.I893M

c.2679C>G

1 paper

NM_002968.3

p.G891G

c.2673G>A

1 paper

NM_002968.3

p.V888A

c.2663T>C

1 paper

NM_002968.3

p.I919V

c.2755A>G

1 paper

NM_002968.3

p.S920*

c.2759C>G

1 paper

NM_002968.3

p.S920*

c.2759C>A