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.I1041I

c.3123T>C

Surrounding Variants

1 paper

NM_014112.5

p.T1038A

c.3112A>G

1 paper

NM_014112.5

p.P1047fs

c.3139_3140fs

1 paper

NM_014112.5

p.P1047delFs

c.3140delG

1 paper

NM_014112.5

p.I1050L

c.3148A>C

1 paper

NM_014112.5

p.S1026delFs

c.3077delC

1 paper

NM_014112.5

p.S1026fs

c.3076_3077fs

1 paper

NM_014112.5

p.S1058N

c.3173G>A

1 paper

NM_014112.5

p.P1062R

c.3185C>G

1 paper

NM_014112.5

p.S1067fs

c.3199_3200fs

1 paper

NM_014112.5

p.S1066_S1067delFs

c.3198_3199delAT

1 paper

NM_014112.5

p.E1070D

c.3210A>T

1 paper

NM_014112.5

p.E1070D

c.3210A>C