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.I330T

c.989T>C

Surrounding Variants

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

4 papers

NM_002968.3

p.G327_N328insFs

c.981_982ins4

1 paper

NM_002968.3

p.G327D

c.980G>A

1 paper

NM_002968.3

p.S335fs

c.1003_1004fs

2 papers

NM_002968.3

p.S335insFs

c.1003dupA

8 papers

NM_002968.3

p.Q323*

c.967C>T

1 paper

NM_002968.3

p.S338A

c.1012T>G

1 paper

NM_002968.3

p.N340S

c.1019A>G

1 paper

NM_002968.3

p.P339_M341delFs

c.1017_1021del5

1 paper

NM_002968.3

p.I319V

c.955A>G