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.K450T

c.1349A>C

Surrounding Variants

2 papers

NM_014112.5

p.Y446*

c.1338C>G

2 papers

NM_014112.5

p.Y446*

c.1338C>A

1 paper

NM_014112.5

p.Y446H

c.1336T>C

1 paper

NM_014112.5

p.R437_N439delFs

c.1310_1317del8

1 paper

NM_014112.5

p.S461*

c.1382C>G

1 paper

NM_014112.5

p.S461*

c.1382C>A

1 paper

NM_014112.5

p.Y468delFs

c.1403delT

1 paper

NM_014112.5

p.K431N

c.1293G>T

1 paper

NM_014112.5

p.K431N

c.1293G>C

1 paper

NM_014112.5

p.P429A

c.1285C>G

1 paper

NM_014112.5

p.G479D

c.1436G>A

1 paper

NM_014112.5

p.E483delFs

c.1449delC