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.T173_L179del0

c.518_535del18

Surrounding Variants

1 paper

NM_002968.3

p.G180R

c.538G>C

1 paper

NM_002968.3

p.G180R

c.538G>A

1 paper

NM_002968.3

p.D181N

c.541G>A

1 paper

NM_002968.3

p.P177L

c.530C>T

1 paper

NM_002968.3

p.D181D

c.543C>T

1 paper

NM_002968.3

p.L176L

c.528A>T

1 paper

NM_002968.3

p.T183I

c.548C>T

1 paper

NM_002968.3

p.T183R

c.548C>G

1 paper

NM_002968.3

p.T184I

c.551C>T

1 paper

NM_001127892.2

p.T77S

c.230C>G

1 paper

NM_001127892.2

p.T77S

c.229A>T

1 paper

NM_002968.3

p.T183_T184del2

c.547_551del6