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.T488I

c.1463C>T

Surrounding Variants

1 paper

NM_002968.3

p.S487P

c.1459T>C

5 papers

NM_002968.3

p.N484_F486Fs

c.1451_1458delinsTFs

1 paper

NM_002968.3

p.N491fs

c.1471_1472fs

6 papers

NM_002968.3

p.G490delFs

c.1470delC

1 paper

NM_002968.3

p.L492M

c.1474C>A

1 paper

NM_002968.3

p.N484fs

c.1450_1451fs

1 paper

NM_002968.3

p.V494insFs

c.1480_1481insAG

1 paper

NM_002968.3

p.V494fs

c.1480_1481fs

2 papers

NM_002968.3

p.K493_V494insFs

c.1479_1480insAG

1 paper

NM_002968.3

p.C482delFs

c.1444delA

1 paper

NM_002968.3

p.H495H

c.1485C>T

1 paper

NM_002968.3

p.N480K

c.1440C>G