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.A207G

c.620C>G

Surrounding Variants

1 paper

NM_002968.3

p.Q301_L303del3

c.901_908del9

1 paper

NM_001127892.2

p.Q204H

c.612G>T

1 paper

NM_002968.3

p.Q301insFs

c.902dupA

1 paper

NM_001127892.2

p.Q204H

c.612G>C

4 papers

NM_002968.3

p.Q301*

c.901C>T

1 paper

NM_002968.3

p.Q301E

c.901C>G

1 paper

NM_002968.3

p.A308V

c.923C>T

1 paper

NM_002968.3

p.A297V

c.890C>T

1 paper

NM_002968.3

p.S311R

c.933T>A

1 paper

NM_002968.3

p.V313_K314insA

c.937_941ins3

3 papers

NM_002968.3

p.K314*

c.940A>T

2 papers

NM_002968.3

p.A294V

c.881C>T