Varaico: Literature-Extracted Genetic Variants

SBDS

500 papers

RefSeq Summary

This gene encodes a highly conserved protein that plays an essential role in ribosome biogenesis. The encoded protein interacts with elongation factor-like GTPase 1 to disassociate eukaryotic initiati...

Pfam Domains

SBDS_Naa 14–101UCSCShwachman-Bodian-Diamond syndrome (SBDS) N-terminal domain

SBDS_domain_IIaa 109–170UCSCSBDS protein, domain II

SBDS_Caa 172–239UCSCSBDS protein, C-terminal domain

Gene Aliases

HGNC Name

SBDS ribosome maturation factor

HGNC Alias Symbols

CGI-97; FLJ10917; SWDS; SDO1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_016038.4

p.P6insFs

c.18dupC

Surrounding Variants

4 papers

NM_016038.4

p.T7fs

c.19_20fs

3 papers

NM_016038.4

p.P6delFs

c.18delG

1 paper

NM_016038.4

p.T7I

c.20C>T

1 paper

NM_016038.4

p.T7insFs

c.20_21ins17

1 paper

NM_016038.4

p.P6fs

c.16_17fs

1 paper

NM_016038.4

p.P6L

c.17C>T

1 paper

NM_016038.4

p.T7fs

c.19_20fs

1 paper

NM_016038.4

p.P6H

c.17C>A

1 paper

NM_016038.4

p.T7delFs

c.21delG

1 paper

NM_016038.4

p.T5fs

c.13_14fs

2 papers

NM_016038.4

p.N8I

c.23A>T

2 papers

NM_016038.4

p.T5I

c.14C>T