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.N93S

c.278A>G

Surrounding Variants

1 paper

NM_002968.3

p.N93I

c.278A>T

1 paper

NM_002968.3

p.N93K

c.279T>A

1 paper

NM_002968.3

p.D92E

c.276T>A

1 paper

NM_002968.3

p.P94T

c.280C>A

1 paper

NM_002968.3

p.P90A

c.268C>G

1 paper

NM_002968.3

p.N93_Q97delins

c.278_289delinsCCGCCTCCT

1 paper

NM_002968.3

p.P89L

c.266C>T

1 paper

NM_002968.3

p.P89S

c.265C>T

1 paper

NM_001127892.2

p.M1insFs

c.1_2insG

1 paper

NM_001127892.2

p.M1I

c.3G>T

1 paper

NM_002968.3

p.P87delFs

c.261delG

2 papers

NM_002968.3

p.P87L

c.260C>T