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

6 papers

NM_002968.3

p.T441insFs

c.1321dupA

Surrounding Variants

1 paper

NM_002968.3

p.T441fs

c.1321_1322fs

1 paper

NM_002968.3

p.S440_T441insFs

c.1320_1321insT

1 paper

NM_002968.3

p.S440N

c.1319G>A

1 paper

NM_002968.3

p.S442fs

c.1324_1325fs

1 paper

NM_002968.3

p.S440G

c.1318A>G

3 papers

NM_002968.3

p.S442delFs

c.1326delG

5 papers

NM_002968.3

p.D443delFs

c.1327delC

1 paper

NM_002968.3

p.D443fs

c.1327_1328fs

1 paper

NM_002968.3

p.A438G

c.1313C>G

1 paper

NM_002968.3

p.A445A

c.1335A>G

1 paper

NM_002968.3

p.F446insFs

c.1337dupT

1 paper

NM_002968.3

p.F447_K448insAGC

c.1339_1343ins9