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.A455_K456delFs

c.1365_1366delTC

Surrounding Variants

1 paper

NM_002968.3

p.A455fs

c.1363_1364fs

1 paper

NM_002968.3

p.V457I

c.1369G>A

1 paper

NM_002968.3

p.A455V

c.1364C>T

1 paper

NM_002968.3

p.A455T

c.1363G>A

1 paper

NM_002968.3

p.F453_C454delFs

c.1358_1361del4

1 paper

NM_002968.3

p.F458fs

c.1372_1373fs

3 papers

NM_002968.3

p.F458delFs

c.1374delA

1 paper

NM_002968.3

p.C451Y

c.1352G>A

1 paper

NM_002968.3

p.D461E

c.1383C>G

1 paper

NM_002968.3

p.D461E

c.1383C>A

1 paper

NM_002968.3

p.K450K

c.1350G>A

1 paper

NM_002968.3

p.H449_K450delFs

c.1347_1348delTG