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.Q425fs

c.1273_1274fs

Surrounding Variants

1 paper

NM_002968.3

p.Q425*

c.1273C>T

3 papers

NM_002968.3

p.Q425delFs

c.1273delG

1 paper

NM_002968.3

p.A423delFs

c.1268delG

1 paper

NM_002968.3

p.A421_L422del2

c.1261_1265del6

1 paper

NM_002968.3

p.R426_K427insFs

c.1278_1279ins4

1 paper

NM_002968.3

p.R426delFs

c.1277_1278delTC

1 paper

NM_002968.3

p.L422fs

c.1264_1265fs

5 papers

NM_002968.3

p.A421delFs

c.1263delG

1 paper

NM_002968.3

p.S428N

c.1283G>A

1 paper

NM_002968.3

p.S428R

c.1284C>G

1 paper

NM_001127892.2

p.S323S

c.969T>A

1 paper

NM_002968.3

p.P430S

c.1288C>T