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

4 papers

NM_014112.5

p.R965H

c.2894G>A

Surrounding Variants

3 papers

NM_014112.5

p.R965C

c.2893C>T

1 paper

NM_014112.5

p.A973T

c.2917G>A

1 paper

NM_014112.5

p.G954fs

c.2860_2861fs

1 paper

NM_014112.5

p.Q951_N953insFs

c.2852_2859dup8

1 paper

NM_014112.5

p.N952_N953delFs

c.2854_2858del5

1 paper

NM_014112.5

p.N977K

c.2931C>G

1 paper

NM_014112.5

p.N977K

c.2931C>A

1 paper

NM_014112.5

p.N952fs

c.2854_2855fs

1 paper

NM_014112.5

p.P945L

c.2834C>T

1 paper

NM_014112.5

p.R944delFs

c.2830delT

1 paper

NM_014112.5

p.R944fs

c.2830_2831fs

1 paper

NM_014112.5

p.S991N

c.2972G>A