Varaico: Literature-Extracted Genetic Variants

Gene:HLA-G
Variant:p.Q300P

HLA-G

299 papers

RefSeq Summary

HLA-G 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

Gene Aliases

HGNC Name

major histocompatibility complex, class I, G

HGNC Previous Name

HLA-G histocompatibility antigen, class I, G

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001384290.1
p.Q300P
c.899A>C
Surrounding Variants
1 paper
NM_001384290.1
p.Q300K
c.898C>A
1 paper
NM_001384290.1
p.K299Splc
c.896-3C>T
1 paper
NM_001384290.1
p.K299Splc
c.896-15C>T
1 paper
NM_001384290.1
p.A313D
c.938C>A
1 paper
NM_001384290.1
p.A313V
c.938C>T
1 paper
NM_001384290.1
p.G314G
c.942C>T
22 papers
NM_001384290.1
p.V322I
c.964G>A
3 papers
NM_001384290.1
p.V330V
c.990G>A
1 paper
NM_001384290.1
p.K299E
c.895A>G
1 paper
NM_001384290.1
p.W298C
c.894G>T
1 paper
NM_001384290.1
p.W298R
c.892T>A
1 paper
NM_001384290.1
p.W298R
c.892T>C
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