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.K67*

c.199A>T

Surrounding Variants

8 papers

NM_016038.4

p.K67E

c.199A>G

1 paper

NM_016038.4

p.G63_A66delFs

c.188_198del11

1 paper

NM_016038.4

p.A66A

c.198C>G

29 papers

NM_016038.4

p.K67K

c.201A>G

1 paper

NM_016038.4

p.K68fs

c.202_203fs

1 paper

NM_016038.4

p.K68*

c.202A>T

1 paper

NM_016038.4

p.K68T

c.203A>C

1 paper

NM_016038.4

p.K67delFs

c.201delT

2 papers

NM_016038.4

p.E69K

c.205G>A

1 paper

NM_016038.4

p.V65I

c.193G>A

1 paper

NM_016038.4

p.Q64H

c.192G>T

2 papers

NM_016038.4

p.Q64H

c.192G>C