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.L47L

c.141C>T

Surrounding Variants

1 paper

NM_016038.4

p.L47F

c.139C>T

1 paper

NM_016038.4

p.L47insFs

c.139_140insGA

1 paper

NM_016038.4

p.L47I

c.139C>A

1 paper

NM_016038.4

p.D46fs

c.136_137fs

2 papers

NM_016038.4

p.E49K

c.145G>A

1 paper

NM_016038.4

p.K45delFs

c.135delT

1 paper

NM_016038.4

p.E49D

c.147A>T

1 paper

NM_016038.4

p.K45N

c.135A>T

1 paper

NM_016038.4

p.E49D

c.147A>C

1 paper

NM_016038.4

p.K45N

c.135A>C

1 paper

NM_016038.4

p.V50insFs

c.148_149insA

1 paper

NM_016038.4

p.K45insFs

c.134_135insC