Varaico: Literature-Extracted Genetic Variants

HLA-DRB5

201 papers

RefSeq Summary

HLA-DRB5 belongs to the HLA class II beta chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DRA) and a beta (DRB) chain, both anchored in the membrane. It plays a centr...

Pfam Domains

MHC_II_betaaa 42–116UCSCClass II histocompatibility antigen, beta domain

C1-setaa 128–209UCSCImmunoglobulin C1-set domain

Gene Aliases

HGNC Name

major histocompatibility complex, class II, DR beta 5

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002125.4

p.T129P

c.385A>C

Surrounding Variants

1 paper

NM_002125.4

p.K127E

c.379A>G

2 papers

NM_002125.4

p.K127Q

c.379A>C

1 paper

NM_002125.4

p.P126S

c.376C>T

1 paper

NM_002125.4

p.E125D

c.375G>T

1 paper

NM_002125.4

p.E125D

c.375G>C

1 paper

NM_002125.4

p.A133S

c.397G>T

1 paper

NM_002125.4

p.E125*

c.373G>T

1 paper

NM_002125.4

p.E125_P126ins9

c.373_377ins27

2 papers

NM_002125.4

p.R134K

c.401G>A

3 papers

NM_002125.4

p.T137P

c.409A>C

1 paper

NM_002125.4

p.R134_T137delins

c.401_409delinsAGACCCAGC

1 paper

NM_002125.4

p.L144M

c.430C>A