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

1–12 of 20 variants

6 papers

NM_006120.4

p.V166I

c.496G>A

4 papers

NM_006120.4

p.G181A

c.542G>C

3 papers

NM_006120.4

p.E61K

c.181G>A

2 papers

NM_006120.4

p.R210C

c.628C>T

2 papers

NM_006120.4

p.R210H

c.629G>A

1 paper

NM_006120.4

p.M1T

c.2T>C

1 paper

NM_006120.4

p.G2A

c.5G>C

1 paper

NM_006120.4

p.A9V

c.26C>T

1 paper

NM_006120.4

p.E29A

c.86A>C

1 paper

NM_006120.4

p.A30Splc

c.88+555G>T

1 paper

NM_006120.4

p.E61*

c.181G>T

1 paper

NM_006120.4

p.E106K

c.316G>A