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.S1004S

c.3012T>C

Surrounding Variants

1 paper

NM_014112.5

p.H1005Q

c.3015C>G

1 paper

NM_014112.5

p.H1005Q

c.3015C>A

1 paper

NM_014112.5

p.E1003K

c.3007G>A

1 paper

NM_014112.5

p.H1000R

c.2999A>G

1 paper

NM_014112.5

p.H1000Y

c.2998C>T

1 paper

NM_014112.5

p.H1000N

c.2998C>A

1 paper

NM_014112.5

p.R996fs

c.2986_2987fs

1 paper

NM_014112.5

p.R996delFs

c.2986delT

1 paper

NM_014112.5

p.E994fs

c.2980_2981fs

1 paper

NM_014112.5

p.S991N

c.2972G>A

1 paper

NM_014112.5

p.S1026fs

c.3076_3077fs

1 paper

NM_014112.5

p.S1026delFs

c.3077delC