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.S366R

c.1096A>C

Surrounding Variants

1 paper

NM_002968.3

p.S366R

c.1098C>G

1 paper

NM_002968.3

p.S366R

c.1098C>A

1 paper

NM_002968.3

p.H364R

c.1091A>G

1 paper

NM_002968.3

p.P368S

c.1102C>T

1 paper

NM_002968.3

p.S363F

c.1088C>T

1 paper

NM_002968.3

p.S363A

c.1087T>G

1 paper

NM_002968.3

p.A369V

c.1106C>T

4 papers

NM_002968.3

p.A362delFs

c.1084_1085delGC

1 paper

NM_002968.3

p.A369A

c.1107G>T

1 paper

NM_002968.3

p.V370fs

c.1108_1109fs

1 paper

NM_002968.3

p.A362fs

c.1084_1085fs

1 paper

NM_002968.3

p.V370delFs

c.1108delC