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

1–12 of 432 variants

296 papers

NM_016038.4

p.Q86_I87Splc

c.258+2T>C

149 papers

NM_016038.4

p.K62*

c.184A>T

48 papers

NM_016038.4

p.S61_K62delins

c.183_184delinsCT

29 papers

NM_016038.4

p.K67K

c.201A>G

20 papers

NM_016038.4

p.R126T

c.377G>C

18 papers

NM_016038.4

p.I212T

c.635T>C

16 papers

NM_016038.4

p.M1T

c.2T>C

16 papers

NM_016038.4

p.L47L

c.141C>T

15 papers

NM_016038.4

p.C84fs

c.250_251fs

14 papers

NM_016038.4

p.R40delFs

c.120delC

14 papers

NM_016038.4

p.V43L

c.127G>T

14 papers

NM_016038.4

p.V43L

c.127G>C