Varaico: Literature-Extracted Genetic Variants

HLA-A

1,059 papers

RefSeq Summary

HLA-A 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 337–364UCSCMHC_I C-terminus

Gene Aliases

HGNC Name

major histocompatibility complex, class I, A

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_002116.8

p.Q86L

c.257A>T

Surrounding Variants

1 paper

NM_002116.8

p.Q86P

c.257A>C

10 papers

NM_002116.8

p.Q86R

c.257A>G

1 paper

NM_002116.8

p.Q86_E87delins

c.257_259delinsGGA

1 paper

NM_002116.8

p.Q86_E87delins

c.257_259delinsTGC

2 papers

NM_002116.8

p.Q86_E87delins

c.257_261delinsGGAAC

18 papers

NM_002116.8

p.Q86E

c.256C>G

1 paper

NM_002116.8

p.Q86delFs

c.257delA

3 papers

NM_002116.8

p.Q86delins

c.256_257delinsGG

1 paper

NM_002116.8

p.Q86_N90delins

c.256_270delinsGAGGAGACAGGGAAA

1 paper

NM_002116.8

p.Q86_E87ins7

c.258_259ins21

7 papers

NM_002116.8

p.E87K

c.259G>A

4 papers

NM_002116.8

p.E87Q

c.259G>C