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.S943_E946del0

c.2829_2837del9

Surrounding Variants

1 paper

NM_002968.3

p.S943_E946del4

c.2827_2837del12

1 paper

NM_002968.3

p.P948A

c.2842C>G

1 paper

NM_002968.3

p.A951V

c.2852C>T

1 paper

NM_002968.3

p.A951A

c.2853G>A

1 paper

NM_002968.3

p.E937Q

c.2809G>C

1 paper

NM_002968.3

p.Q936Q

c.2808G>A

1 paper

NM_002968.3

p.A957A

c.2871C>T

1 paper

NM_002968.3

p.T935M

c.2804C>T

1 paper

NM_002968.3

p.N958S

c.2873A>G

1 paper

NM_002968.3

p.S934fs

c.2800_2801fs

1 paper

NM_002968.3

p.S934delFs

c.2801delC

1 paper

NM_002968.3

p.G959C

c.2875G>T