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.Q272*

c.814C>T

Surrounding Variants

1 paper

NM_002968.3

p.Q272R

c.815A>G

1 paper

NM_002968.3

p.G273insFs

c.817dupG

5 papers

NM_002968.3

p.G273delFs

c.817delC

3 papers

NM_002968.3

p.P270L

c.809C>T

1 paper

NM_002968.3

p.S269N

c.806G>A

1 paper

NM_002968.3

p.L275fs

c.823_824fs

6 papers

NM_002968.3

p.L275*

c.824T>G

5 papers

NM_002968.3

p.L275*

c.824T>A

1 paper

NM_002968.3

p.L275delFs

c.824delA

33 papers

NM_002968.3

p.R276*

c.826C>T

1 paper

NM_002968.3

p.R276Q

c.827G>A

1 paper

NM_002968.3

p.S278A

c.832T>G