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.P476P

c.1428A>T

Surrounding Variants

2 papers

NM_002968.3

p.P476_F477insFs

c.1428_1429insT

1 paper

NM_002968.3

p.P476delFs

c.1427delG

4 papers

NM_002968.3

p.T472_R475delFs

c.1415_1425del11

2 papers

NM_002968.3

p.F477_K478insAGC

c.1429_1433ins9

1 paper

NM_002968.3

p.F477_K478ins6

c.1429_1433ins18

1 paper

NM_002968.3

p.E474_R475del2

c.1420_1424del6

1 paper

NM_002968.3

p.R475M

c.1424G>T

2 papers

NM_002968.3

p.R469_F477del9

c.1405_1430del27

1 paper

NM_002968.3

p.R475_F477del3

c.1423_1430del9

1 paper

NM_002968.3

p.E474A

c.1421A>C

1 paper

NM_001127892.2

p.T375_G376delFs

c.1123_1126del4

1 paper

NM_002968.3

p.G473fs

c.1417_1418fs