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.S540fs

c.1618_1619fs

Surrounding Variants

1 paper

NM_002968.3

p.T539delFs

c.1617delG

1 paper

NM_002968.3

p.W541G

c.1621T>G

1 paper

NM_002968.3

p.W541*

c.1622G>A

1 paper

NM_002968.3

p.T544T

c.1632C>T

1 paper

NM_002968.3

p.P534P

c.1602A>G

1 paper

NM_002968.3

p.P534L

c.1601C>T

1 paper

NM_002968.3

p.P546A

c.1636C>G

1 paper

NM_002968.3

p.P546R

c.1637C>G

1 paper

NM_002968.3

p.I532I

c.1596C>T

1 paper

NM_002968.3

p.P549T

c.1645C>A

1 paper

NM_002968.3

p.P549delFs

c.1646delG

1 paper

NM_002968.3

p.G529S

c.1585G>A