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

5 papers

NM_002968.3

p.T349insFs

c.1047dupC

Surrounding Variants

1 paper

NM_002968.3

p.T350fs

c.1048_1049fs

1 paper

NM_002968.3

p.T350N

c.1049C>A

3 papers

NM_002968.3

p.T349insFs

c.1045dupA

1 paper

NM_002968.3

p.T349fs

c.1045_1046fs

1 paper

NM_002968.3

p.P351P

c.1053G>A

1 paper

NM_002968.3

p.S353fs

c.1057_1058fs

1 paper

NM_002968.3

p.A345insFs

c.1033dupG

1 paper

NM_002968.3

p.A345S

c.1033G>T

1 paper

NM_002968.3

p.L344F

c.1032G>T

1 paper

NM_002968.3

p.L344F

c.1032G>C

1 paper

NM_002968.3

p.K355T

c.1064A>C

2 papers

NM_002968.3

p.I343delFs

c.1028_1029delTA