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.S371S

c.1113A>C

Surrounding Variants

6 papers

NM_002968.3

p.S371*

c.1112C>G

6 papers

NM_002968.3

p.S371*

c.1112C>A

9 papers

NM_002968.3

p.S372*

c.1115C>G

10 papers

NM_002968.3

p.S372*

c.1115C>A

1 paper

NM_002968.3

p.V370delFs

c.1108_1109delAC

1 paper

NM_002968.3

p.V370delFs

c.1108delC

1 paper

NM_002968.3

p.V370fs

c.1108_1109fs

1 paper

NM_002968.3

p.A369A

c.1107G>T

1 paper

NM_002968.3

p.A369V

c.1106C>T

1 paper

NM_002968.3

p.S374fs

c.1120_1121fs

1 paper

NM_002968.3

p.P368S

c.1102C>T

1 paper

NM_002968.3

p.S375fs

c.1123_1124fs