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_001127892.2

p.T943_N946del0

c.2829_2837del9

Surrounding Variants

1 paper

NM_001127892.2

p.T943_N946del4

c.2827_2837del12

1 paper

NM_002968.3

p.K1041K

c.3123G>A

2 papers

NM_002968.3

p.H1047R

c.3140A>G

1 paper

NM_002968.3

p.S1039F

c.3116C>T

1 paper

NM_002968.3

p.R1036C

c.3106C>T

1 paper

NM_002968.3

p.V1033insFs

c.3098dupT

9 papers

NM_002968.3

p.R1054*

c.3160C>T

1 paper

NM_002968.3

p.R1054_D1055insA

c.3160_3164ins3

1 paper

NM_002968.3

p.T1032delFs

c.3095_3096delTG

1 paper

NM_002968.3

p.T1032K

c.3095C>A

1 paper

NM_002968.3

p.I1030V

c.3088A>G

1 paper

NM_002968.3

p.S1058S

c.3174C>T