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.S1080L

c.3239C>T

Surrounding Variants

1 paper

NM_002968.3

p.N1079N

c.3237C>T

2 papers

NM_002968.3

p.A1078T

c.3232G>A

1 paper

NM_002968.3

p.P1077P

c.3231C>T

1 paper

NM_001127892.2

p.P980A

c.2938C>G

1 paper

NM_002968.3

p.L1084fs

c.3250_3251fs

1 paper

NM_002968.3

p.L1084_I1085del2

c.3250_3254del6

2 papers

NM_002968.3

p.S1083_I1085delFs

c.3249_3255del7

2 papers

NM_002968.3

p.K1086R

c.3257A>G

2 papers

NM_002968.3

p.K1086N

c.3258G>T

2 papers

NM_002968.3

p.K1086N

c.3258G>C

1 paper

NM_002968.3

p.Q1071R

c.3212A>G

1 paper

NM_002968.3

p.N1070S

c.3209A>G