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.S158R

c.472A>C

Surrounding Variants

1 paper

NM_002968.3

p.S158delFs

c.472delT

1 paper

NM_002968.3

p.S157N

c.470G>A

1 paper

NM_002968.3

p.S158R

c.474C>G

1 paper

NM_002968.3

p.S158fs

c.472_473fs

1 paper

NM_002968.3

p.S158R

c.474C>A

8 papers

NM_002968.3

p.S159G

c.475A>G

1 paper

NM_002968.3

p.S159_G160insSS

c.475_479ins6

1 paper

NM_002968.3

p.S159N

c.476G>A

1 paper

NM_002968.3

p.S158_S159delFs

c.474_475delTG

2 papers

NM_002968.3

p.S156N

c.467G>A

1 paper

NM_002968.3

p.S159_G160ins2

c.477_478ins6

2 papers

NM_002968.3

p.S159_G160ins1

c.477_478insAGC