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.Q507fs

c.1519_1520fs

Surrounding Variants

5 papers

NM_002968.3

p.Q507*

c.1519C>T

3 papers

NM_002968.3

p.I506insFs

c.1516_1517dupAT

1 paper

NM_002968.3

p.I506T

c.1517T>C

1 paper

NM_002968.3

p.P504L

c.1511C>T

3 papers

NM_002968.3

p.Y503*

c.1509C>G

4 papers

NM_002968.3

p.Y503*

c.1509C>A

1 paper

NM_002968.3

p.Y503C

c.1508A>G

2 papers

NM_002968.3

p.E501_K502delFs

c.1503_1504delTC

1 paper

NM_002968.3

p.K502fs

c.1504_1505fs

1 paper

NM_002968.3

p.E501D

c.1503G>T

1 paper

NM_002968.3

p.E501D

c.1503G>C

1 paper

NM_002968.3

p.K500delFs

c.1499_1500delTT