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.V60G

c.179T>G

Surrounding Variants

1 paper

NM_016038.4

p.V60I

c.178G>A

1 paper

NM_016038.4

p.S61fs

c.181_182fs

3 papers

NM_016038.4

p.S61S

c.183T>C

149 papers

NM_016038.4

p.K62*

c.184A>T

1 paper

NM_016038.4

p.V58V

c.174A>T

1 paper

NM_016038.4

p.K62Fs

c.184delinsCTFs

1 paper

NM_016038.4

p.K62E

c.184A>G

48 papers

NM_016038.4

p.S61_K62delins

c.183_184delinsCT

2 papers

NM_016038.4

p.K62T

c.185A>C

1 paper

NM_016038.4

p.S61_K62delins

c.183_184delinsTA

1 paper

NM_016038.4

p.V58L

c.172G>T

1 paper

NM_016038.4

p.V58L

c.172G>C