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.N417K

c.1251C>A

Surrounding Variants

1 paper

NM_002968.3

p.N417K

c.1251C>G

1 paper

NM_002968.3

p.L419fs

c.1255_1256fs

6 papers

NM_002968.3

p.L419*

c.1256T>A

3 papers

NM_002968.3

p.L419delFs

c.1255delA

1 paper

NM_001127892.2

p.S323S

c.969T>A

1 paper

NM_002968.3

p.E414*

c.1240G>T

5 papers

NM_002968.3

p.A421delFs

c.1263delG

1 paper

NM_001127892.2

p.T315_A316delFs

c.943_946del4

1 paper

NM_002968.3

p.L422fs

c.1264_1265fs

1 paper

NM_002968.3

p.T412I

c.1235C>T

1 paper

NM_002968.3

p.A421_L422del2

c.1261_1265del6

1 paper

NM_002968.3

p.T411P

c.1231A>C