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.S1119F

c.3356C>T

Surrounding Variants

1 paper

NM_002968.3

p.T1118A

c.3352A>G

1 paper

NM_002968.3

p.S1106_S1115del0

c.3316_3345del30

1 paper

NM_002968.3

p.P1112delFs

c.3336delA

2 papers

NM_002968.3

p.P1112L

c.3335C>T

1 paper

NM_002968.3

p.L1123_L1126del4

c.3367_3377del12

1 paper

NM_002968.3

p.S1110S

c.3330T>A

1 paper

NM_002968.3

p.P1109P

c.3327G>A

1 paper

NM_002968.3

p.P1109L

c.3326C>T

1 paper

NM_001127892.2

p.P1012A

c.3034C>G

NM_002968.3

p.P1109A

c.3325C>G

1 paper

NM_002968.3

p.V1108V

c.3324C>T

1 paper

NM_002968.3

p.V1108V

c.3324C>G

1 paper

NM_002968.3

p.K1132R

c.3395A>G