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_001127892.2

p.T187A

c.559A>G

Surrounding Variants

1 paper

NM_002968.3

p.T284M

c.851C>T

1 paper

NM_002968.3

p.T284T

c.852G>C

1 paper

NM_002968.3

p.T284T

c.852G>A

1 paper

NM_002968.3

p.L285P

c.854T>C

1 paper

NM_002968.3

p.L282*

c.845T>A

1 paper

NM_002968.3

p.L285L

c.855A>T

3 papers

NM_002968.3

p.N280delFs

c.840delG

1 paper

NM_002968.3

p.L282fs

c.844_845fs

1 paper

NM_002968.3

p.S286N

c.857G>A

2 papers

NM_002968.3

p.H288L

c.863A>T

1 paper

NM_002968.3

p.S278A

c.832T>G

1 paper

NM_002968.3

p.R276Q

c.827G>A