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

15 papers

NM_005514.8

p.C349S

c.1045T>A

Surrounding Variants

1 paper

NM_005514.8

p.C349insFs

c.1046_1047insTC

16 papers

NM_005514.8

p.C349S

c.1046G>C

1 paper

NM_005514.8

p.C349Y

c.1046G>A

1 paper

NM_005514.8

p.C349fs

c.1045_1046fs

1 paper

NM_005514.8

p.S350fs

c.1048_1049fs

1 paper

NM_005514.8

p.S350S

c.1050C>T

1 paper

NM_005514.8

p.C349_S350delFs

c.1046_1049del4

1 paper

NM_005514.8

p.D351_S352ins4

c.1051_1055ins12

3 papers

NM_005514.8

p.D351N

c.1051G>A

1 paper

NM_005514.8

p.S352_A353insCC

c.1054_1058ins6

1 paper

NM_005514.8

p.S352_A353ins4

c.1054_1058ins12

1 paper

NM_005514.8

p.G355V

c.1064G>T