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.T744T

c.2232C>T

Surrounding Variants

1 paper

NM_002968.3

p.T745T

c.2235G>A

1 paper

NM_002968.3

p.C739G

c.2215T>G

1 paper

NM_002968.3

p.G730_C736delFs

c.2188_2207del20

1 paper

NM_002968.3

p.H752delFs

c.2256delG

1 paper

NM_002968.3

p.Y753fs

c.2257_2258fs

1 paper

NM_002968.3

p.S754G

c.2260A>G

1 paper

NM_002968.3

p.S754delFs

c.2260delT

1 paper

NM_002968.3

p.P733T

c.2197C>A

2 papers

NM_002968.3

p.R757H

c.2270G>A

1 paper

NM_002968.3

p.H728delFs

c.2184delG

1 paper

NM_002968.3

p.P760P

c.2280C>T

2 papers

NM_002968.3

p.R726R

c.2178G>A