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.Y1020*

c.3060T>G

Surrounding Variants

2 papers

NM_002968.3

p.Y1020*

c.3060T>A

1 paper

NM_002968.3

p.H1019H

c.3057C>T

1 paper

NM_002968.3

p.K1025E

c.3073A>G

1 paper

NM_002968.3

p.R1027I

c.3080G>T

1 paper

NM_002968.3

p.P1028P

c.3084A>G

1 paper

NM_002968.3

p.C1012fs

c.3034_3035fs

1 paper

NM_002968.3

p.G1007_A1011insFs

c.3019_3032dup14

1 paper

NM_002968.3

p.A1011V

c.3032C>T

1 paper

NM_002968.3

p.I1030V

c.3088A>G

1 paper

NM_002968.3

p.T1009T

c.3027A>G

1 paper

NM_002968.3

p.T1032K

c.3095C>A

1 paper

NM_002968.3

p.T1032delFs

c.3095_3096delTG