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.T84I

c.251C>T

Surrounding Variants

4 papers

NM_002968.3

p.E83K

c.247G>A

1 paper

NM_002968.3

p.S80_P82delFs

c.239_245del7

2 papers

NM_002968.3

p.P82P

c.246C>T

1 paper

NM_002968.3

p.S86F

c.257C>T

1 paper

NM_002968.3

p.P82L

c.245C>T

1 paper

NM_002968.3

p.V71_P81del11

c.211_242del33

1 paper

NM_002968.3

p.P87T

c.259C>A

2 papers

NM_002968.3

p.P87L

c.260C>T

1 paper

NM_002968.3

p.P81S

c.241C>T

1 paper

NM_002968.3

p.P87delFs

c.261delG

1 paper

NM_002968.3

p.P89S

c.265C>T

1 paper

NM_002968.3

p.P89L

c.266C>T