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.S861*

c.2582C>A

Surrounding Variants

1 paper

NM_002968.3

p.E859D

c.2577G>T

1 paper

NM_002968.3

p.E859D

c.2577G>C

4 papers

NM_002968.3

p.L858L

c.2574C>T

1 paper

NM_002968.3

p.L858L

c.2574C>A

1 paper

NM_002968.3

p.P857L

c.2570C>T

1 paper

NM_002968.3

p.P857T

c.2569C>A

1 paper

NM_002968.3

p.E867K

c.2599G>A

1 paper

NM_002968.3

p.P855L

c.2564C>T

1 paper

NM_002968.3

p.L851L

c.2553A>G

1 paper

NM_002968.3

p.L851V

c.2551T>G

1 paper

NM_002968.3

p.K871N

c.2613G>T

1 paper

NM_002968.3

p.K871N

c.2613G>C