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.P1063R

c.3188C>G

Surrounding Variants

1 paper

NM_002968.3

p.Q1059*

c.3175C>T

1 paper

NM_002968.3

p.S1058S

c.3174C>T

1 paper

NM_002968.3

p.N1070fs

c.3208_3209fs

1 paper

NM_002968.3

p.P1069insFs

c.3207dupC

1 paper

NM_002968.3

p.N1070S

c.3209A>G

1 paper

NM_002968.3

p.Q1071R

c.3212A>G

9 papers

NM_002968.3

p.R1054*

c.3160C>T

1 paper

NM_002968.3

p.R1054_D1055insA

c.3160_3164ins3

1 paper

NM_001127892.2

p.P980A

c.2938C>G

1 paper

NM_002968.3

p.P1077P

c.3231C>T

2 papers

NM_002968.3

p.A1078T

c.3232G>A

2 papers

NM_002968.3

p.H1047R

c.3140A>G