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.E122K

c.364G>A

Surrounding Variants

1 paper

NM_002968.3

p.R121G

c.361A>G

1 paper

NM_002968.3

p.N117N

c.351C>T

1 paper

NM_002968.3

p.V127A

c.380T>C

1 paper

NM_002968.3

p.H116H

c.348C>T

1 paper

NM_002968.3

p.V127V

c.381G>A

1 paper

NM_002968.3

p.H116Y

c.346C>T

1 paper

NM_002968.3

p.E128D

c.384G>T

1 paper

NM_002968.3

p.E128D

c.384G>C

2 papers

NM_002968.3

p.S114A

c.340T>G

1 paper

NM_002968.3

p.P130S

c.388C>T

1 paper

NM_002968.3

p.P130R

c.389C>G

1 paper

NM_001127892.2

p.P33insFs

c.98_99insG