Varaico: Literature-Extracted Genetic Variants

TRPS1

238 papers

RefSeq Summary

This gene encodes a transcription factor that represses GATA-regulated genes and binds to a dynein light chain protein. Binding of the encoded protein to the dynein light chain protein affects binding...

Pfam Domains

Znf_C2H2_Trps1_1staa 216–271UCSCTrps1 zinc finger C2H2-type 1

Znf_C2H2_Trps1_2ndaa 308–363UCSCTrps1 zinc finger C2H2-type 2

Znf_C2H2_Trps1_3rdaa 401–460UCSCTrps1 zinc finger C2H2-type 3

Znf_C2H2_Trps1_4thaa 519–598UCSCTrps1 zinc finger C2H2-type 4

Znf_C2H2_Trps1_5thaa 611–642UCSCTrps1 zinc finger C2H2-type 5

GATAaa 896–930UCSCGATA zinc finger

Gene Aliases

HGNC Name

transcriptional repressor GATA binding 1

HGNC Alias Symbols

LGCR; GC79

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_014112.5

p.G133delFs

c.398delC

Surrounding Variants

2 papers

NM_014112.5

p.G133fs

c.397_398fs

1 paper

NM_014112.5

p.F126_C135delFs

c.378_403del26

2 papers

NM_014112.5

p.P141L

c.422C>T

1 paper

NM_014112.5

p.Q150E

c.448C>G

1 paper

NM_014112.5

p.D151Y

c.451G>T

1 paper

NM_014112.5

p.D151V

c.452A>T

1 paper

NM_014112.5

p.H115Y

c.343C>T

1 paper

NM_014112.5

p.A153S

c.457G>T

1 paper

NM_014112.5

p.P114S

c.340C>T

1 paper

NM_014112.5

p.S112S

c.336C>A

1 paper

NM_014112.5

p.S94I

c.281G>T

1 paper

NM_014112.5

p.L93L

c.277C>T