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

5 papers

NM_014112.5

p.R696*

c.2086C>T

Surrounding Variants

1 paper

NM_014112.5

p.H697N

c.2089C>A

1 paper

NM_014112.5

p.Y698*

c.2094C>G

1 paper

NM_014112.5

p.Y698*

c.2094C>A

2 papers

NM_014112.5

p.Q689*

c.2065C>T

1 paper

NM_014112.5

p.H679Q

c.2037C>G

1 paper

NM_014112.5

p.H679Q

c.2037C>A

1 paper

NM_014112.5

p.K677N

c.2031A>T

1 paper

NM_014112.5

p.K677N

c.2031A>C

1 paper

NM_014112.5

p.S667T

c.1999T>A

1 paper

NM_014112.5

p.Q665insFs

c.1995dupA

1 paper

NM_014112.5

p.G666fs

c.1996_1997fs

1 paper

NM_014112.5

p.L664delFs

c.1990delG