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

8 papers

NM_002968.3

p.Q323*

c.967C>T

Surrounding Variants

1 paper

NM_002968.3

p.I319V

c.955A>G

1 paper

NM_002968.3

p.L316_P318del3

c.946_953del9

1 paper

NM_002968.3

p.G327D

c.980G>A

4 papers

NM_002968.3

p.G327_N328insFs

c.981_982ins4

4 papers

NM_002968.3

p.P317S

c.949C>T

1 paper

NM_002968.3

p.Q315_L316delFs

c.943_946del4

1 paper

NM_002968.3

p.I330T

c.989T>C

1 paper

NM_002968.3

p.Q315*

c.943C>T

3 papers

NM_002968.3

p.K314*

c.940A>T

2 papers

NM_002968.3

p.P332fs

c.994_995fs

11 papers

NM_002968.3

p.P332delFs

c.995delG

1 paper

NM_002968.3

p.S333P

c.997T>C