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

1 paper

NM_014112.5

p.C339fs

c.1015_1016fs

Surrounding Variants

1 paper

NM_014112.5

p.P337_D338insFs

c.1010_1014dup5

1 paper

NM_014112.5

p.Y345H

c.1033T>C

1 paper

NM_014112.5

p.F346delFs

c.1037delA

1 paper

NM_014112.5

p.S325delFs

c.974delG

2 papers

NM_014112.5

p.S325*

c.974C>G

2 papers

NM_014112.5

p.S325*

c.974C>A

1 paper

NM_014112.5

p.Q322_V323Splc

c.967-1G>T

1 paper

NM_014112.5

p.Q365*

c.1093C>T

2 papers

NM_014112.5

p.H366insFs

c.1096_1097insA

1 paper

NM_014112.5

p.Q369*

c.1105C>T

1 paper

NM_014112.5

p.Q369P

c.1106A>C

1 paper

NM_014112.5

p.A377_S378insFs

c.1131_1132insC