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

1 paper

NM_016038.4

p.S233S

c.699T>C

Surrounding Variants

2 papers

NM_016038.4

p.E235K

c.703G>A

1 paper

NM_016038.4

p.G232R

c.694G>C

1 paper

NM_016038.4

p.G232S

c.694G>A

1 paper

NM_016038.4

p.E235G

c.704A>G

2 papers

NM_016038.4

p.L237V

c.709C>G

1 paper

NM_016038.4

p.N238S

c.713A>G

1 paper

NM_016038.4

p.T228S

c.683C>G

2 papers

NM_016038.4

p.K240*

c.718A>T

1 paper

NM_016038.4

p.E227G

c.680A>G

1 paper

NM_016038.4

p.E227*

c.679G>T

1 paper

NM_016038.4

p.E227Q

c.679G>C

1 paper

NM_016038.4

p.V242L

c.724G>T