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.N531_M532del2

c.1591_1595del6

Surrounding Variants

1 paper

NM_014112.5

p.T534M

c.1601C>T

1 paper

NM_014112.5

p.N531S

c.1592A>G

1 paper

NM_014112.5

p.S535insFs

c.1603_1604insA

1 paper

NM_014112.5

p.Y536C

c.1607A>G

1 paper

NM_014112.5

p.F523V

c.1567T>G

12 papers

NM_014112.5

p.R544*

c.1630C>T

1 paper

NM_014112.5

p.R544Q

c.1631G>A

1 paper

NM_014112.5

p.G517R

c.1549G>C

1 paper

NM_014112.5

p.G517R

c.1549G>A

1 paper

NM_014112.5

p.G557E

c.1670G>A

1 paper

NM_014112.5

p.L560F

c.1678C>T

2 papers

NM_014112.5

p.R561H

c.1682G>A