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

3 papers

NM_014112.5

p.L217*

c.650T>G

Surrounding Variants

3 papers

NM_014112.5

p.L217*

c.650T>A

1 paper

NM_014112.5

p.S213Y

c.638C>A

1 paper

NM_014112.5

p.P223L

c.668C>T

1 paper

NM_014112.5

p.Q233K

c.697C>A

1 paper

NM_014112.5

p.Q233H

c.699G>C

1 paper

NM_014112.5

p.Q201*

c.601C>T

2 papers

NM_014112.5

p.P200P

c.600A>T

1 paper

NM_014112.5

p.D234D

c.702C>T

1 paper

NM_014112.5

p.L190_P200Fs

c.568_598delinsAAGAAFs

4 papers

NM_014112.5

p.N199I

c.596A>T

1 paper

NM_014112.5

p.K198E

c.592A>G

1 paper

NM_014112.5

p.N247S

c.740A>G