Varaico: Literature-Extracted Genetic Variants

HLA-DMA

44 papers

RefSeq Summary

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

Pfam Domains

MHC_II_alphaaa 41–118UCSCClass II histocompatibility antigen, alpha domain

C1-setaa 129–209UCSCImmunoglobulin C1-set domain

Gene Aliases

HGNC Name

major histocompatibility complex, class II, DM alpha

HGNC Alias Symbols

D6S222E; RING6

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_006120.4

p.I120I

c.360C>A

Surrounding Variants

1 paper

NM_006120.4

p.G113G

c.339G>A

1 paper

NM_006120.4

p.E106K

c.316G>A

1 paper

NM_006120.4

p.E61*

c.181G>T

3 papers

NM_006120.4

p.E61K

c.181G>A

1 paper

NM_006120.4

p.P136P

c.408C>T

1 paper

NM_006120.4

p.V159E

c.476T>A

1 paper

NM_006120.4

p.S165F

c.494C>T

6 papers

NM_006120.4

p.V166I

c.496G>A

1 paper

NM_006120.4

p.D180D

c.540T>C

4 papers

NM_006120.4

p.G181A

c.542G>C

2 papers

NM_006120.4

p.R210C

c.628C>T

2 papers

NM_006120.4

p.R210H

c.629G>A