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

2 papers

NM_016038.4

p.K118N

c.354A>C

Surrounding Variants

2 papers

NM_016038.4

p.K118N

c.354A>T

2 papers

NM_016038.4

p.C119R

c.355T>C

1 paper

NM_016038.4

p.K118T

c.353A>C

4 papers

NM_016038.4

p.C119Y

c.356G>A

1 paper

NM_016038.4

p.K118*

c.352A>T

2 papers

NM_016038.4

p.K118E

c.352A>G

1 paper

NM_016038.4

p.V120M

c.358G>A

1 paper

NM_016038.4

p.D117V

c.350A>T

1 paper

NM_016038.4

p.V120A

c.359T>C

1 paper

NM_016038.4

p.A116T

c.346G>A

6 papers

NM_016038.4

p.N121T

c.362A>C

1 paper

NM_016038.4

p.P122S

c.364C>T