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.M55I

c.165G>A

Surrounding Variants

4 papers

NM_014112.5

p.E57G

c.170A>G

1 paper

NM_014112.5

p.T59_D60insAA

c.175_179ins6

1 paper

NM_014112.5

p.T59M

c.176C>T

1 paper

NM_014112.5

p.S51F

c.152C>T

2 papers

NM_014112.5

p.Q61K

c.181C>A

2 papers

NM_014112.5

p.E49K

c.145G>A

1 paper

NM_014112.5

p.K46N

c.138G>T

1 paper

NM_014112.5

p.K46N

c.138G>C

1 paper

NM_014112.5

p.N68T

c.203A>C

1 paper

NM_014112.5

p.S41R

c.123C>G

1 paper

NM_014112.5

p.S41R

c.123C>A

1 paper

NM_014112.5

p.S41R

c.121A>C