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.C1164C

c.3492C>T

Surrounding Variants

1 paper

NM_002968.3

p.G1168E

c.3503G>A

1 paper

NM_002968.3

p.A1170G

c.3509C>G

1 paper

NM_002968.3

p.G1158delFs

c.3473delC

1 paper

NM_002968.3

p.G1158E

c.3473G>A

1 paper

NM_002968.3

p.T1172T

c.3516G>A

1 paper

NM_002968.3

p.E1153K

c.3457G>A

1 paper

NM_002968.3

p.K1174_G1175del2

c.3520_3524del6

3 papers

NM_002968.3

p.H1152H

c.3456C>T

2 papers

NM_002968.3

p.Q1150Q

c.3450G>A

1 paper

NM_002968.3

p.A1148_L1149ins4

c.3442_3446ins12

1 paper

NM_002968.3

p.S1146*

c.3437C>A

1 paper

NM_002968.3

p.S1146_S1147insAT

c.3436_3440ins6