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

1–12 of 869 variants

33 papers

NM_002968.3

p.R276*

c.826C>T

11 papers

NM_002968.3

p.P332delFs

c.995delG

10 papers

NM_002968.3

p.S372*

c.1115C>A

9 papers

NM_002968.3

p.S372*

c.1115C>G

9 papers

NM_002968.3

p.R1054*

c.3160C>T

9 papers

NM_002968.3

p.T1138_C1139delFs

c.3414_3415delAT

8 papers

NM_002968.3

p.S159G

c.475A>G

8 papers

NM_002968.3

p.Q323*

c.967C>T

8 papers

NM_002968.3

p.G607delFs

c.1819delC

7 papers

NM_002968.3

p.S140delFs

c.419delG

6 papers

NM_002968.3

p.T105delFs

c.313delT

6 papers

NM_002968.3

p.Q272*

c.814C>T