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

9 papers

NM_002968.3

p.T1138_C1139delFs

c.3414_3415delAT

Surrounding Variants

1 paper

NM_002968.3

p.C1139W

c.3417T>G

2 papers

NM_002968.3

p.C1139fs

c.3415_3416fs

1 paper

NM_002968.3

p.N1137D

c.3409A>G

1 paper

NM_002968.3

p.C1136Y

c.3407G>A

1 paper

NM_002968.3

p.T1142I

c.3425C>T

1 paper

NM_002968.3

p.Y1135F

c.3404A>T

1 paper

NM_002968.3

p.F1143_S1144del1

c.3428_3430delAGA

2 papers

NM_002968.3

p.S1145_S1146insTA

c.3433_3437ins6

1 paper

NM_002968.3

p.Q1133*

c.3397C>T

1 paper

NM_002968.3

p.S1146_S1147insAT

c.3436_3440ins6

1 paper

NM_002968.3

p.S1146*

c.3437C>A

1 paper

NM_002968.3

p.K1132R

c.3395A>G