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.C909S

c.2725T>A

Surrounding Variants

1 paper

NM_014112.5

p.C909insFs

c.2725dupT

2 papers

NM_014112.5

p.C909S

c.2726G>C

3 papers

NM_014112.5

p.C909Y

c.2726G>A

1 paper

NM_014112.5

p.V907D

c.2720T>A

1 paper

NM_014112.5

p.N911Y

c.2731A>T

1 paper

NM_014112.5

p.N911S

c.2732A>G

1 paper

NM_014112.5

p.C912Y

c.2735G>A

1 paper

NM_014112.5

p.R902H

c.2705G>A

1 paper

NM_014112.5

p.R901R

c.2701A>C

1 paper

NM_014112.5

p.R900_R901Splc

c.2701-1G>A

3 papers

NM_014112.5

p.L919V

c.2755C>G

1 paper

NM_014112.5

p.L919P

c.2756T>C