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.P651L

c.1952C>T

Surrounding Variants

1 paper

NM_002968.3

p.C649C

c.1947C>T

1 paper

NM_002968.3

p.G653D

c.1958G>A

1 paper

NM_002968.3

p.S654C

c.1960A>T

1 paper

NM_002968.3

p.T656fs

c.1966_1967fs

1 paper

NM_002968.3

p.A646P

c.1936G>C

1 paper

NM_002968.3

p.T656_T659delFs

c.1966_1975del10

1 paper

NM_002968.3

p.L642V

c.1924C>G

1 paper

NM_002968.3

p.A652_N660del0

c.1954_1980del27

1 paper

NM_002968.3

p.L663L

c.1989G>A

1 paper

NM_002968.3

p.S638N

c.1913G>A

1 paper

NM_002968.3

p.A637A

c.1911G>C

1 paper

NM_002968.3

p.T636T

c.1908G>A