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.N933fs

c.2797_2798fs

Surrounding Variants

1 paper

NM_002968.3

p.S932insFs

c.2796dupC

1 paper

NM_002968.3

p.N933K

c.2799C>G

1 paper

NM_002968.3

p.N933delFs

c.2799delG

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.T935M

c.2804C>T

1 paper

NM_002968.3

p.S930Y

c.2789C>A

1 paper

NM_002968.3

p.L929L

c.2787G>A

1 paper

NM_002968.3

p.Q936Q

c.2808G>A

1 paper

NM_002968.3

p.E937Q

c.2809G>C

1 paper

NM_002968.3

p.A928T

c.2782G>A

6 papers

NM_002968.3

p.Q927*

c.2779C>T