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

1–12 of 33 variants

3 papers

NM_002118.5

p.D49V

c.146A>T

3 papers

NM_002118.5

p.F66S

c.197T>C

3 papers

NM_002118.5

p.S71N

c.212G>A

3 papers

NM_002118.5

p.T197I

c.590C>T

2 papers

NM_002118.5

p.A162V

c.485C>T

1 paper

NM_002118.5

p.M1T

c.2T>C

1 paper

NM_002118.5

p.M1K

c.2T>A

1 paper

NM_002118.5

p.L8P

c.23T>C

1 paper

NM_002118.5

p.T28A

c.82A>G

1 paper

NM_002118.5

p.T36T

c.108T>C

1 paper

NM_002118.5

p.E58D

c.174G>C

1 paper

NM_002118.5

p.P63L

c.188C>T