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

2 papers

NM_002125.4

p.N48N

c.144C>T

Surrounding Variants

5 papers

NM_002125.4

p.F47L

c.141C>G

5 papers

NM_002125.4

p.F47L

c.141C>A

5 papers

NM_002125.4

p.F47L

c.139T>C

1 paper

NM_002125.4

p.H45Y

c.133C>T

1 paper

NM_002125.4

p.R52R

c.156G>A

1 paper

NM_002125.4

p.C44_H45insCT

c.130_134ins6

5 papers

NM_002125.4

p.R54W

c.160C>T

2 papers

NM_002125.4

p.E43_C44insGT

c.127_131ins6

2 papers

NM_002125.4

p.R54Q

c.161G>A

2 papers

NM_002125.4

p.E43K

c.127G>A

1 paper

NM_002125.4

p.F55L

c.163T>C

5 papers

NM_002125.4

p.F55I

c.163T>A