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

5 papers

NM_002968.3

p.S382delFs

c.1146delA

Surrounding Variants

1 paper

NM_002968.3

p.L383insFs

c.1148_1149ins4

1 paper

NM_002968.3

p.L383fs

c.1147_1148fs

1 paper

NM_002968.3

p.S382_L383insFs

c.1146_1147insAT

4 papers

NM_002968.3

p.S382insFs

c.1145_1146insTA

1 paper

NM_002968.3

p.S385S

c.1155T>C

1 paper

NM_002968.3

p.I380R

c.1139T>G

1 paper

NM_002968.3

p.A387A

c.1161G>C

1 paper

NM_002968.3

p.A379V

c.1136C>T

5 papers

NM_002968.3

p.F378delFs

c.1134delA

1 paper

NM_002968.3

p.N389H

c.1165A>C

1 paper

NM_002968.3

p.F378fs

c.1132_1133fs

1 paper

NM_002968.3

p.A377fs

c.1129_1130fs