Varaico: Literature-Extracted Genetic Variants

HLA-DRB1

592 papers

RefSeq Summary

HLA-DRB1 belongs to the HLA class II beta chain paralogs. The class II molecule is a heterodimer consisting of an alpha (DRA) and a beta chain (DRB), both anchored in the membrane. It plays a central ...

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 1

HGNC Previous Symbol

HLA-DR1B

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002124.4

p.H206Y

c.616C>T

Surrounding Variants

2 papers

NM_002124.4

p.H206H

c.618C>T

1 paper

NM_002124.4

p.E198_H206Fs

c.593_618delinsGAGCATFs

1 paper

NM_002124.4

p.E198_V204delFs

c.593_612del20

4 papers

NM_002124.4

p.V204L

c.610G>T

4 papers

NM_002124.4

p.V204L

c.610G>C

2 papers

NM_002124.4

p.V204M

c.610G>A

1 paper

NM_002124.4

p.S208S

c.624C>T

2 papers

NM_002124.4

p.V209L

c.625G>T

2 papers

NM_002124.4

p.V209L

c.625G>C

3 papers

NM_002124.4

p.V209M

c.625G>A

1 paper

NM_002124.4

p.E198_V209Fs

c.593_625delinsGAGCATCCAAGCAFs

3 papers

NM_002124.4

p.Q203K

c.607C>A