Varaico: Literature-Extracted Genetic Variants

Gene:HLA-G
Variant:p.H117L

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.H117L
c.350A>T
Surrounding Variants
1 paper
NM_001384290.1
p.H117P
c.350A>C
2 papers
NM_001384290.1
p.H117H
c.351C>T
1 paper
NM_001363567.2
p.S120Splc
c.359-14G>A
1 paper
NM_001384290.1
p.G124G
c.372C>T
1 paper
NM_001384290.1
p.C125G
c.373T>G
1 paper
NM_001384290.1
p.D126N
c.376G>A
1 paper
NM_001384290.1
p.D130H
c.388G>C
6 papers
NM_001384290.1
p.G131R
c.391G>A
1 paper
NM_001384290.1
p.R132H
c.395G>A
1 paper
NM_001384290.1
p.L133P
c.398T>C
7 papers
NM_001384290.1
p.L134I
c.400C>A
NM_001363567.2
p.L139I
c.415C>A
1 paper
NM_001384290.1
p.Q139K
c.415C>A
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