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.C44_H45insCT

c.130_134ins6

Surrounding Variants

2 papers

NM_002125.4

p.E43_C44insGT

c.127_131ins6

2 papers

NM_002125.4

p.E43K

c.127G>A

1 paper

NM_002125.4

p.H45Y

c.133C>T

3 papers

NM_002125.4

p.Y42F

c.125A>T

4 papers

NM_002125.4

p.Y42C

c.125A>G

2 papers

NM_002125.4

p.Y42S

c.125A>C

1 paper

NM_002125.4

p.Y42ins3

c.125_126ins9

1 paper

NM_002125.4

p.Q38_Y42delins

c.112_125delinsGAGGAGGTTAAGTT

1 paper

NM_002125.4

p.Q38_Y42delins

c.112_125delinsGAGCTGCGTAAGTC

2 papers

NM_002125.4

p.Y42_E43insTT

c.124_128ins6

1 paper

NM_002125.4

p.Y42D

c.124T>G

3 papers

NM_002125.4

p.Y42H

c.124T>C