Varaico: Literature-Extracted Genetic Variants

Gene:HLA-DRB5
Variant:p.H57D

HLA-DRB5

201 papers

RefSeq Summary

HLA-DRB5 belongs to the HLA class II beta chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DRA) and a beta (DRB) chain, both anchored in the membrane. It plays a centr...

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 5

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_002125.4
p.H57D
c.169C>G
Surrounding Variants
5 papers
NM_002125.4
p.H57N
c.169C>A
1 paper
NM_002125.4
p.H57fs
c.169_170fs
5 papers
NM_002125.4
p.H57L
c.170A>T
3 papers
NM_002125.4
p.H57Q
c.171C>G
1 paper
NM_002125.4
p.H57fs
c.169_170fs
3 papers
NM_002125.4
p.H57Q
c.171C>A
1 paper
NM_002125.4
p.R58G
c.172A>G
2 papers
NM_002125.4
p.H57_R58delFs
c.171_172delTG
1 paper
NM_002125.4
p.F55L
c.165C>G
1 paper
NM_002125.4
p.F55L
c.165C>A
1 paper
NM_002125.4
p.F55delins
c.164_165delinsAT
1 paper
NM_002125.4
p.F55Y
c.164T>A
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