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.P33insFs

c.98_99insG

Surrounding Variants

1 paper

NM_002968.3

p.P33Q

c.98C>A

1 paper

NM_002968.3

p.S34R

c.100A>C

1 paper

NM_002968.3

p.Q32L

c.95A>T

1 paper

NM_002968.3

p.S34R

c.102T>G

1 paper

NM_002968.3

p.S34R

c.102T>A

1 paper

NM_002968.3

p.G31A

c.92G>C

2 papers

NM_002968.3

p.R35H

c.104G>A

1 paper

NM_002968.3

p.G31C

c.91G>T

1 paper

NM_002968.3

p.P36S

c.106C>T

1 paper

NM_002968.3

p.T37S

c.109A>T

1 paper

NM_002968.3

p.T37S

c.110C>G

1 paper

NM_002968.3

p.T28T

c.84A>C