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.E30K

c.88G>A

Surrounding Variants

2 papers

NM_014112.5

p.Q32*

c.94C>T

1 paper

NM_014112.5

p.Q32R

c.95A>G

1 paper

NM_014112.5

p.R23fs

c.67_68fs

1 paper

NM_014112.5

p.P21L

c.62C>T

1 paper

NM_014112.5

p.P21T

c.61C>A

1 paper

NM_014112.5

p.P20insFs

c.59_60insAA

1 paper

NM_014112.5

p.S41R

c.121A>C

1 paper

NM_014112.5

p.S41R

c.123C>G

1 paper

NM_014112.5

p.S41R

c.123C>A

1 paper

NM_014112.5

p.R16Q

c.47G>A

1 paper

NM_014112.5

p.M14I

c.42G>A

2 papers

NM_014112.5

p.N13fs

c.37_38fs