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

1–12 of 355 variants

12 papers

NM_014112.5

p.R544*

c.1630C>T

9 papers

NM_014112.5

p.R921Q

c.2762G>A

7 papers

NM_014112.5

p.A932V

c.2795C>T

5 papers

NM_014112.5

p.Q400*

c.1198C>T

5 papers

NM_014112.5

p.R696*

c.2086C>T

4 papers

NM_014112.5

p.E57G

c.170A>G

4 papers

NM_014112.5

p.N199I

c.596A>T

4 papers

NM_014112.5

p.A932T

c.2794G>A

4 papers

NM_014112.5

p.R965H

c.2894G>A

3 papers

NM_014112.5

p.G133delFs

c.398delC

3 papers

NM_014112.5

p.L217*

c.650T>G

3 papers

NM_014112.5

p.L217*

c.650T>A