Varaico: Literature-Extracted Genetic Variants

Gene:HLA-DOB
Variant:p.V54insFs

HLA-DOB

32 papers

RefSeq Summary

HLA-DOB belongs to the HLA class II beta chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DOA) and a beta chain (DOB), both anchored in the membrane. It is located in ...

Pfam Domains

MHC_II_betaaa 39–113UCSCClass II histocompatibility antigen, beta domain
C1-setaa 125–206UCSCImmunoglobulin C1-set domain

Gene Aliases

HGNC Name

major histocompatibility complex, class II, DO beta

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002120.4
p.V54insFs
c.161_162ins4
Surrounding Variants
1 paper
NM_002120.4
p.V54ins4
c.160_161ins12
1 paper
NM_002120.4
p.V54fs
c.160_161fs
1 paper
NM_002120.4
p.V34L
c.100G>T
1 paper
NM_002120.4
p.V34L
c.100G>C
1 paper
NM_002120.4
p.D32D
c.96T>C
1 paper
NM_002120.4
p.E31Splc
c.92-1G>A
2 papers
NM_002120.4
p.Q86K
c.256C>A
1 paper
NM_002120.4
p.S97I
c.290G>T
1 paper
NM_002120.4
p.V125A
c.374T>C
1 paper
NM_002120.4
p.Y128H
c.382T>C
1 paper
NM_002120.4
p.P150L
c.449C>T
1 paper
NM_002120.4
p.K154N
c.462G>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."