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.S202R

c.606C>G

Surrounding Variants

1 paper

NM_002968.3

p.S202R

c.606C>A

1 paper

NM_002968.3

p.S202G

c.604A>G

1 paper

NM_002968.3

p.S202R

c.604A>C

1 paper

NM_002968.3

p.K204E

c.610A>G

1 paper

NM_002968.3

p.Q201R

c.602A>G

1 paper

NM_002968.3

p.V205fs

c.613_614fs

1 paper

NM_002968.3

p.V205insFs

c.613dupG

3 papers

NM_002968.3

p.L200F

c.598C>T

1 paper

NM_002968.3

p.V207V

c.621G>C

1 paper

NM_002968.3

p.N194_V195ins1

c.582_583insCAG

1 paper

NM_002968.3

p.N194N

c.582C>T

1 paper

NM_002968.3

p.S211F

c.632C>T