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.R11H

c.32G>A

Surrounding Variants

1 paper

NM_016038.4

p.L12P

c.35T>C

2 papers

NM_016038.4

p.T13A

c.37A>G

1 paper

NM_016038.4

p.T13I

c.38C>T

2 papers

NM_016038.4

p.Q9*

c.25C>T

2 papers

NM_016038.4

p.N8K

c.24C>G

3 papers

NM_016038.4

p.N8K

c.24C>A

2 papers

NM_016038.4

p.N8I

c.23A>T

1 paper

NM_016038.4

p.N14I

c.41A>T

7 papers

NM_016038.4

p.N14S

c.41A>G

1 paper

NM_016038.4

p.T7delFs

c.21delG

1 paper

NM_016038.4

p.V15M

c.43G>A

1 paper

NM_016038.4

p.T7fs

c.19_20fs