Varaico: Literature-Extracted Genetic Variants

TCOF1

357 papers

RefSeq Summary

This gene encodes a nucleolar protein with a LIS1 homology domain. The protein is involved in ribosomal DNA gene transcription through its interaction with upstream binding factor (UBF). Mutations in ...

Pfam Domains

Treacleaa 247–334UCSCTreacher Collins syndrome protein Treacle

Treacleaa 316–427UCSCTreacher Collins syndrome protein Treacle

Treacleaa 422–904UCSCTreacher Collins syndrome protein Treacle

Treacleaa 870–957UCSCTreacher Collins syndrome protein Treacle

Gene Aliases

HGNC Name

treacle ribosome biogenesis factor 1

HGNC Alias Symbols

treacle; TCS

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001371623.1

p.D700_S701delFs

c.2099_2102del4

Surrounding Variants

1 paper

NM_001371623.1

p.D700delFs

c.2098_2099delGA

1 paper

NM_001371623.1

p.D700fs

c.2098_2099fs

6 papers

NM_001371623.1

p.S701_E702delFs

c.2103_2106del4

NM_000356.4

p.S624_E625delFs

c.1872_1875del4

2 papers

NM_001371623.1

p.S701fs

c.2101_2102fs

3 papers

NM_001371623.1

p.S701fs

c.2101_2102fs

1 paper

NM_001371623.1

p.K705insFs

c.2115dupG

1 paper

NM_001371623.1

p.P689fs

c.2065_2066fs

1 paper

NM_001371623.1

p.P689_D692delFs

c.2065_2075del11

1 paper

NM_001371623.1

p.V682fs

c.2044_2045fs

1 paper

NM_001371623.1

p.S678*

c.2033C>A

1 paper

NM_001371623.1

p.S678*

c.2033C>G

1 paper

NM_001371623.1

p.S678L

c.2033C>T