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.P403insFs

c.1208dupC

Surrounding Variants

1 paper

NM_002968.3

p.P403delFs

c.1209delG

2 papers

NM_002968.3

p.P403S

c.1207C>T

1 paper

NM_002968.3

p.P405T

c.1213C>A

2 papers

NM_002968.3

p.S400_F402delFs

c.1200_1206del7

1 paper

NM_002968.3

p.S400_V401del2

c.1198_1202del6

4 papers

NM_002968.3

p.G410*

c.1228G>T

1 paper

NM_002968.3

p.G410R

c.1228G>C

1 paper

NM_002968.3

p.G410R

c.1228G>A

1 paper

NM_002968.3

p.A398T

c.1192G>A

1 paper

NM_002968.3

p.G410E

c.1229G>A

1 paper

NM_002968.3

p.S397S

c.1191C>G

1 paper

NM_002968.3

p.T411P

c.1231A>C