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.I220F

c.658A>T

Surrounding Variants

1 paper

NM_016038.4

p.I220T

c.659T>C

1 paper

NM_016038.4

p.E219G

c.656A>G

1 paper

NM_016038.4

p.R218P

c.653G>C

4 papers

NM_016038.4

p.R218Q

c.653G>A

2 papers

NM_016038.4

p.E222Q

c.664G>C

1 paper

NM_016038.4

p.E222K

c.664G>A

8 papers

NM_016038.4

p.R218*

c.652C>T

3 papers

NM_016038.4

p.F217F

c.651C>T

3 papers

NM_016038.4

p.P214L

c.641C>T

1 paper

NM_016038.4

p.P214Q

c.641C>A

2 papers

NM_016038.4

p.D213delFs

c.637_638delTC

1 paper

NM_016038.4

p.I212_D213delins

c.635_638delinsAACATACCTGTTT