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.D1172G

c.3515A>G

Surrounding Variants

1 paper

NM_014112.5

p.P1176_L1177insT

c.3526_3530ins3

1 paper

NM_014112.5

p.L1177V

c.3529C>G

1 paper

NM_014112.5

p.D1178E

c.3534T>G

1 paper

NM_014112.5

p.D1178E

c.3534T>A

1 paper

NM_014112.5

p.P1188S

c.3562C>T

1 paper

NM_014112.5

p.C1151F

c.3452G>T

1 paper

NM_014112.5

p.P1148S

c.3442C>T

1 paper

NM_014112.5

p.S1142I

c.3425G>T

2 papers

NM_014112.5

p.S1142delFs

c.3424delT

1 paper

NM_014112.5

p.S1142fs

c.3424_3425fs

1 paper

NM_014112.5

p.N1203T

c.3608A>C

1 paper

NM_014112.5

p.N1206fs

c.3616_3617fs