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

2 papers

NM_002968.3

p.C65S

c.193T>A

Surrounding Variants

2 papers

NM_002968.3

p.N64K

c.192C>G

1 paper

NM_002968.3

p.N64K

c.192C>A

2 papers

NM_002968.3

p.K63_N64del1

c.189_191delTTC

1 paper

NM_002968.3

p.N64H

c.190A>C

2 papers

NM_002968.3

p.L60_K62del3

c.178_185del9

1 paper

NM_002968.3

p.K62_K63ins1

c.186_187insAGC

1 paper

NM_002968.3

p.K62_K63ins5

c.186_187ins15

1 paper

NM_002968.3

p.H61_K62delFs

c.183_184delTG

3 papers

NM_002968.3

p.K62E

c.184A>G

1 paper

NM_002968.3

p.Q69_L70insG

c.205_209ins3

1 paper

NM_002968.3

p.L60R

c.179T>G

1 paper

NM_002968.3

p.L60F

c.178C>T