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.L821L

c.2463A>G

Surrounding Variants

1 paper

NM_001127892.2

p.D723_L724insGGA

c.2167_2171ins9

1 paper

NM_002968.3

p.S808Y

c.2423C>A

1 paper

NM_002968.3

p.S836C

c.2506A>T

1 paper

NM_002968.3

p.I837I

c.2511C>A

1 paper

NM_002968.3

p.S803S

c.2409T>G

2 papers

NM_002968.3

p.T840K

c.2519C>A

1 paper

NM_002968.3

p.K842M

c.2525A>T

1 paper

NM_002968.3

p.P797delFs

c.2390delG

1 paper

NM_002968.3

p.Q848Q

c.2544A>G

1 paper

NM_002968.3

p.Q792_I793del2

c.2374_2378del6

1 paper

NM_002968.3

p.L851V

c.2551T>G

1 paper

NM_002968.3

p.Q792R

c.2375A>G