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.L919P

c.2756T>C

Surrounding Variants

3 papers

NM_014112.5

p.L919V

c.2755C>G

3 papers

NM_014112.5

p.R921*

c.2761C>T

1 paper

NM_014112.5

p.R921P

c.2762G>C

9 papers

NM_014112.5

p.R921Q

c.2762G>A

1 paper

NM_014112.5

p.C912Y

c.2735G>A

1 paper

NM_014112.5

p.N911S

c.2732A>G

1 paper

NM_014112.5

p.N911Y

c.2731A>T

2 papers

NM_014112.5

p.Y928C

c.2783A>G

1 paper

NM_014112.5

p.Y928insFs

c.2783_2784insC

1 paper

NM_014112.5

p.V929fs

c.2785_2786fs

1 paper

NM_014112.5

p.V929G

c.2786T>G

1 paper

NM_014112.5

p.C909insFs

c.2725dupT