Varaico: Literature-Extracted Genetic Variants

Gene:ASB18
Variant:p.L20*

ASB18

42 papers

RefSeq Summary

The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and a SOCS box domain. The SOCS box serves to ...

Pfam Domains

Ank_2aa 124–215UCSCAnkyrin repeats (3 copies)
Ank_2aa 223–321UCSCAnkyrin repeats (3 copies)
SOCS_boxaa 420–458UCSCSOCS box

Gene Aliases

HGNC Name

ankyrin repeat and SOCS box containing 18

HGNC Previous Name

ankyrin repeat and SOCS box-containing 18

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_212556.4
p.L20*
c.59T>A
Surrounding Variants
1 paper
NM_212556.4
p.L20*
c.59T>G
1 paper
NM_212556.4
p.D53Y
c.157G>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."