Varaico: Literature-Extracted Genetic Variants

HLA-B

1,133 papers

RefSeq Summary

HLA-B belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the...

Pfam Domains

MHC_Iaa 25–203UCSCClass I Histocompatibility antigen, domains alpha 1 and 2

C1-setaa 211–290UCSCImmunoglobulin C1-set domain

MHC_I_Caa 337–362UCSCMHC_I C-terminus

Gene Aliases

HGNC Name

major histocompatibility complex, class I, B

HGNC Previous Name

ankylosing spondylitis

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_005514.8

p.Q94_A95delins

c.282_283delinsCA

Surrounding Variants

8 papers

NM_005514.8

p.A95T

c.283G>A

3 papers

NM_005514.8

p.Q94delFs

c.281_282delCT

2 papers

NM_005514.8

p.A93_A95delins

c.277_283delinsACCAACA

7 papers

NM_005514.8

p.Q94H

c.282G>T

6 papers

NM_005514.8

p.Q94fs

c.280_281fs

8 papers

NM_005514.8

p.Q94H

c.282G>C

1 paper

NM_005514.8

p.Q94delins

c.280_282delinsAAC

5 papers

NM_005514.8

p.Q94_A95delFs

c.282_283delCC

2 papers

NM_005514.8

p.A95A

c.285A>G

3 papers

NM_005514.8

p.Q94fs

c.280_281fs

1 paper

NM_005514.8

p.Q96fs

c.286_287fs

1 paper

NM_005514.8

p.Q96*

c.286C>T