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

3 papers

NM_002124.4

p.S66delins

c.196_197delinsAA

Surrounding Variants

6 papers

NM_002124.4

p.S66F

c.197C>T

10 papers

NM_002124.4

p.S66Y

c.197C>A

1 paper

NM_002124.4

p.V53_S66delins

c.157_197delinsTACCTGTAAAGATATTTCTATAACCAAGAGGAGTA

9 papers

NM_002124.4

p.S66T

c.196T>A

1 paper

NM_002124.4

p.S66S

c.198C>T

2 papers

NM_002124.4

p.S66fs

c.196_197fs

1 paper

NM_002124.4

p.S66fs

c.196_197fs

4 papers

NM_002124.4

p.V67L

c.199G>T

3 papers

NM_002124.4

p.E65_S66insFs

c.195_196insC

3 papers

NM_002124.4

p.V67L

c.199G>C

1 paper

NM_002124.4

p.S66_V67delins

c.197_199delinsTCC

13 papers

NM_002124.4

p.V67A

c.200T>C