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

16 papers

NM_016038.4

p.M1T

c.2T>C

Surrounding Variants

1 paper

NM_016038.4

p.M1I

c.3G>T

1 paper

NM_016038.4

p.M1_S2insFs

c.3_4insA

1 paper

NM_016038.4

p.M1I

c.3G>C

3 papers

NM_016038.4

p.M1I

c.3G>A

2 papers

NM_016038.4

p.M1L

c.1A>T

1 paper

NM_016038.4

p.M1V

c.1A>G

2 papers

NM_016038.4

p.M1L

c.1A>C

1 paper

NM_016038.4

p.S2L

c.5C>T

1 paper

NM_016038.4

p.I3F

c.7A>T

2 papers

NM_016038.4

p.I3V

c.7A>G

2 papers

NM_016038.4

p.I3T

c.8T>C

1 paper

NM_016038.4

p.I3I

c.9C>A