Varaico: Literature-Extracted Genetic Variants

HLA-DMB

47 papers

RefSeq Summary

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

Pfam Domains

MHC_II_betaaa 27–106UCSCClass II histocompatibility antigen, beta domain

C1-setaa 117–199UCSCImmunoglobulin C1-set domain

Gene Aliases

HGNC Name

major histocompatibility complex, class II, DM beta

HGNC Alias Symbols

D6S221E; RING7

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002118.5

p.Q167L

c.500A>T

Surrounding Variants

1 paper

NM_002118.5

p.H163R

c.488A>G

2 papers

NM_002118.5

p.A162V

c.485C>T

1 paper

NM_002118.5

p.A162E

c.485C>A

1 paper

NM_002118.5

p.T176T

c.528C>A

1 paper

NM_002118.5

p.T146T

c.438T>A

1 paper

NM_002118.5

p.V145M

c.433G>A

3 papers

NM_002118.5

p.T197I

c.590C>T

1 paper

NM_002118.5

p.T122S

c.365C>G

1 paper

NM_002118.5

p.H100fs

c.298_299fs

1 paper

NM_002118.5

p.A98V

c.293C>T

1 paper

NM_002118.5

p.G93E

c.278G>A

1 paper

NM_002118.5

p.R91S

c.271C>A