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.P609S

c.1825C>T

Surrounding Variants

8 papers

NM_002968.3

p.G607delFs

c.1819delC

1 paper

NM_002968.3

p.G606G

c.1818T>C

1 paper

NM_002968.3

p.N604K

c.1812C>G

1 paper

NM_002968.3

p.N604K

c.1812C>A

1 paper

NM_002968.3

p.T602P

c.1804A>C

1 paper

NM_002968.3

p.A601S

c.1801G>T

1 paper

NM_002968.3

p.L617V

c.1849C>G

1 paper

NM_002968.3

p.G621C

c.1861G>T

1 paper

NM_002968.3

p.G596R

c.1786G>C

1 paper

NM_002968.3

p.G596R

c.1786G>A

1 paper

NM_002968.3

p.E625*

c.1873G>T

1 paper

NM_002968.3

p.E625K

c.1873G>A