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.Q411fs

c.1231_1232fs

Surrounding Variants

1 paper

NM_014112.5

p.Q411insFs

c.1231dupC

1 paper

NM_014112.5

p.W410L

c.1229G>T

1 paper

NM_014112.5

p.K413E

c.1237A>G

1 paper

NM_014112.5

p.T415I

c.1244C>T

5 papers

NM_014112.5

p.Q400*

c.1198C>T

1 paper

NM_014112.5

p.P397L

c.1190C>T

1 paper

NM_014112.5

p.N393fs

c.1177_1178fs

1 paper

NM_014112.5

p.P429A

c.1285C>G

2 papers

NM_014112.5

p.S392insFs

c.1176dupT

1 paper

NM_014112.5

p.S392S

c.1176T>C

1 paper

NM_014112.5

p.S392F

c.1175C>T

1 paper

NM_014112.5

p.N391T

c.1172A>C