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

2 papers

NM_014112.5

p.G1073fs

c.3217_3218fs

Surrounding Variants

1 paper

NM_014112.5

p.K1072_S1074delFs

c.3216_3220del5

1 paper

NM_014112.5

p.E1070D

c.3210A>T

1 paper

NM_014112.5

p.E1070D

c.3210A>C

1 paper

NM_014112.5

p.E1076Q

c.3226G>C

1 paper

NM_014112.5

p.S1066_S1067delFs

c.3198_3199delAT

1 paper

NM_014112.5

p.S1067fs

c.3199_3200fs

1 paper

NM_014112.5

p.P1062R

c.3185C>G

1 paper

NM_014112.5

p.Y1084*

c.3252C>G

1 paper

NM_014112.5

p.Y1084*

c.3252C>A

1 paper

NM_014112.5

p.R1086T

c.3257G>C

1 paper

NM_014112.5

p.S1058N

c.3173G>A

1 paper

NM_014112.5

p.A1088V

c.3263C>T