Varaico: Literature-Extracted Genetic Variants

Gene:FCGRT
Variant:p.L319Q

FCGRT

96 papers

RefSeq Summary

This gene encodes a receptor that binds the Fc region of monomeric immunoglobulin G. The encoded protein transfers immunoglobulin G antibodies from mother to fetus across the placenta. This protein al...

Pfam Domains

MHC_Iaa 26–112UCSCClass I Histocompatibility antigen, domains alpha 1 and 2
MHC_Iaa 26–197UCSCClass I Histocompatibility antigen, domains alpha 1 and 2
C1-setaa 207–282UCSCImmunoglobulin C1-set domain

Gene Aliases

HGNC Name

Fc gamma receptor and transporter

HGNC Alias Symbols

FcgammaRn; FcRn

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001136019.3
p.L319Q
c.956T>A
Surrounding Variants
1 paper
NM_001136019.3
p.G317*
c.949G>T
1 paper
NM_001136019.3
p.G317del1
c.949_950delGGA
1 paper
NM_001136019.3
p.M324I
c.972G>A
1 paper
NM_001136019.3
p.M324I
c.972G>C
1 paper
NM_001136019.3
p.M324I
c.972G>T
1 paper
NM_001136019.3
p.L328R
c.983T>G
2 papers
NM_001136019.3
p.P329A
c.985C>G
1 paper
NM_001136019.3
p.L309Q
c.926T>A
1 paper
NM_001136019.3
p.L309V
c.925C>G
1 paper
NM_001136019.3
p.A330T
c.988G>A
5 papers
NM_001136019.3
p.A330S
c.988G>T
2 papers
NM_001136019.3
p.A330V
c.989C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."