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.V639I

c.1915G>A

Surrounding Variants

1 paper

NM_014112.5

p.D638insFs

c.1913_1914insG

1 paper

NM_014112.5

p.P637H

c.1910C>A

1 paper

NM_014112.5

p.E647fs

c.1939_1940fs

1 paper

NM_014112.5

p.H627del1

c.1879_1880delATG

2 papers

NM_014112.5

p.Q628*

c.1882C>T

1 paper

NM_014112.5

p.H650P

c.1949A>C

1 paper

NM_014112.5

p.Q653*

c.1957C>T

2 papers

NM_014112.5

p.R624*

c.1870C>T

1 paper

NM_014112.5

p.S623S

c.1869G>A

1 paper

NM_014112.5

p.S623L

c.1868C>T

1 paper

NM_014112.5

p.D656Y

c.1966G>T

1 paper

NM_014112.5

p.D656N

c.1966G>A